ClinVar for Gene (Select 8675) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4632455	NM_001001433.3(STX16):c.646C>G (p.Arg216Gly)	STX16, STX16-NPEPL1 (R216G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4277543	NM_001001433.3(STX16):c.556+1G>A	STX16, STX16-NPEPL1	Single nucleotide variant (splice donor variant)	Pseudohypoparathyroidism type 1B	GPathogenic
Select item 4177244	NM_001001433.3(STX16):c.532C>A (p.His178Asn)	STX16, STX16-NPEPL1 (H157N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4177243	NM_001001433.3(STX16):c.587A>G (p.His196Arg)	STX16, STX16-NPEPL1 (H143R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4177242	NM_001001433.3(STX16):c.548A>G (p.Tyr183Cys)	STX16, STX16-NPEPL1 (Y162C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4177241	NM_001001433.3(STX16):c.425C>T (p.Ala142Val)	STX16, STX16-NPEPL1 (A138V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4177240	NM_001001433.3(STX16):c.413G>A (p.Arg138His)	STX16, STX16-NPEPL1 (R134H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4177239	NM_001001433.3(STX16):c.722G>T (p.Arg241Leu)	STX16, STX16-NPEPL1 (R220L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3963672	NM_001001433.3(STX16):c.54C>G (p.Ile18Met)	STX16, STX16-NPEPL1 (I18M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3963671	NM_001001433.3(STX16):c.898C>T (p.Arg300Trp)	STX16, STX16-NPEPL1 (R247W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3963670	NM_001001433.3(STX16):c.514C>T (p.Leu172Phe)	STX16, STX16-NPEPL1 (L155F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3963669	NM_001001433.3(STX16):c.109C>A (p.Leu37Met)	STX16, STX16-NPEPL1 (L37M)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3905935	NM_001001433.3(STX16):c.394-2A>C	STX16, STX16-NPEPL1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3901267	NC_000020.10:g.55906911_58646228del	ANKRD60, APCDD1L +31 more	Deletion	Pseudohypoparathyroidism type 1C	GPathogenic
Select item 3892580	NM_001001433.3(STX16):c.1A>G (p.Met1Val)	STX16, STX16-NPEPL1 (M1V)	Single nucleotide variant (non-coding transcript variant +3 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3802732	NM_001001433.3(STX16):c.881A>T (p.Gln294Leu)	STX16, STX16-NPEPL1 (Q241L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3802731	NM_001001433.3(STX16):c.845C>T (p.Thr282Ile)	STX16, STX16-NPEPL1 (T265I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3781293	NM_001001433.3(STX16):c.655A>G (p.Thr219Ala)	STX16, STX16-NPEPL1 (T166A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3708327	NM_001001433.3(STX16):c.798A>T (p.Thr266=)	STX16-NPEPL1, STX16	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3699366	NM_001001433.3(STX16):c.264T>C (p.Asp88=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3698487	NM_001001433.3(STX16):c.258G>A (p.Gln86=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3697635	NM_001001433.3(STX16):c.874-12_874-10del	STX16, STX16-NPEPL1	Microsatellite (intron variant)	not provided	GBenign
Select item 3682343	NM_001001433.3(STX16):c.459G>A (p.Gln153=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3678823	NM_001001433.3(STX16):c.393+10G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3677917	NM_001001433.3(STX16):c.874-20T>G	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3676212	NM_001001433.3(STX16):c.203T>C (p.Ile68Thr)	STX16, STX16-NPEPL1 (I15T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3675138	NM_001001433.3(STX16):c.648+12G>C	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3674487	NM_001001433.3(STX16):c.648+11G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3658806	NM_001001433.3(STX16):c.377C>G (p.Thr126Ser)	STX16, STX16-NPEPL1 (T105S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3632783	NM_001001433.3(STX16):c.581C>T (p.Ser194Phe)	STX16, STX16-NPEPL1 (S141F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3624181	NM_001001433.3(STX16):c.119G>A (p.Arg40His)	STX16, STX16-NPEPL1 (R40H)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance
Select item 3610395	NM_001001433.3(STX16):c.150T>C (p.Ala50=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3587584	NM_001001433.3(STX16):c.949G>T (p.Val317Phe)	STX16, STX16-NPEPL1 (V264F +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587583	NM_001001433.3(STX16):c.943C>T (p.Leu315Phe)	STX16, STX16-NPEPL1 (L262F +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587582	NM_001001433.3(STX16):c.884A>G (p.Tyr295Cys)	STX16, STX16-NPEPL1 (Y242C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3587581	NM_001001433.3(STX16):c.839T>G (p.Ile280Ser)	STX16, STX16-NPEPL1 (I263S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587580	NM_001001433.3(STX16):c.822C>T (p.Asn274=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587579	NM_001001433.3(STX16):c.803T>A (p.Leu268His)	STX16, STX16-NPEPL1 (L251H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3587578	NM_001001433.3(STX16):c.792+18C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587577	NM_001001433.3(STX16):c.789dup (p.Gln264fs)	STX16, STX16-NPEPL1 (Q243fs +4 more)	Duplication (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587576	NM_001001433.3(STX16):c.752A>G (p.Asn251Ser)	STX16-NPEPL1, STX16 (N198S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587575	NM_001001433.3(STX16):c.721C>T (p.Arg241Cys)	STX16, STX16-NPEPL1 (R237C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587574	NM_001001433.3(STX16):c.648+3A>G	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587573	NM_001001433.3(STX16):c.647G>A (p.Arg216Gln)	STX16, STX16-NPEPL1 (R163Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587572	NM_001001433.3(STX16):c.615G>T (p.Met205Ile)	STX16, STX16-NPEPL1 (M152I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587571	NM_001001433.3(STX16):c.608C>T (p.Pro203Leu)	STX16, STX16-NPEPL1 (P199L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587570	NM_001001433.3(STX16):c.596A>T (p.Asp199Val)	STX16, STX16-NPEPL1 (D182V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587569	NM_001001433.3(STX16):c.595G>A (p.Asp199Asn)	STX16-NPEPL1, STX16 (D146N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587568	NM_001001433.3(STX16):c.588T>A (p.His196Gln)	STX16, STX16-NPEPL1 (H175Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587567	NM_001001433.3(STX16):c.581C>G (p.Ser194Cys)	STX16, STX16-NPEPL1 (S190C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587566	NM_001001433.3(STX16):c.575A>G (p.Glu192Gly)	STX16, STX16-NPEPL1 (E188G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587565	NM_001001433.3(STX16):c.571_592delinsAA (p.Glu191fs)	STX16, STX16-NPEPL1 (E191fs +4 more)	Indel (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587564	NM_001001433.3(STX16):c.559A>G (p.Met187Val)	STX16, STX16-NPEPL1 (M183V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587561	NM_001001433.3(STX16):c.530G>A (p.Arg177Gln)	STX16, STX16-NPEPL1 (R173Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3587560	NM_001001433.3(STX16):c.501G>C (p.Gln167His)	STX16-NPEPL1, STX16 (Q150H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587559	NM_001001433.3(STX16):c.492G>T (p.Ser164=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587558	NM_001001433.3(STX16):c.491C>T (p.Ser164Leu)	STX16-NPEPL1, STX16 (S111L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587557	NM_001001433.3(STX16):c.461A>C (p.Glu154Ala)	STX16, STX16-NPEPL1 (E150A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587556	NM_001001433.3(STX16):c.454G>C (p.Glu152Gln)	STX16, STX16-NPEPL1 (E131Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587555	NM_001001433.3(STX16):c.445G>T (p.Ala149Ser)	STX16, STX16-NPEPL1 (A128S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587554	NM_001001433.3(STX16):c.442C>G (p.Arg148Gly)	STX16, STX16-NPEPL1 (R127G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587553	NM_001001433.3(STX16):c.437G>A (p.Arg146Gln)	STX16, STX16-NPEPL1 (R129Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3587552	NM_001001433.3(STX16):c.434G>A (p.Ser145Asn)	STX16, STX16-NPEPL1 (S124N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587551	NM_001001433.3(STX16):c.423G>C (p.Gln141His)	STX16-NPEPL1, STX16 (Q137H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587550	NM_001001433.3(STX16):c.412C>T (p.Arg138Cys)	STX16, STX16-NPEPL1 (R117C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587549	NM_001001433.3(STX16):c.407G>T (p.Cys136Phe)	STX16, STX16-NPEPL1 (C136F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587548	NM_001001433.3(STX16):c.394-14G>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587547	NM_001001433.3(STX16):c.386T>A (p.Ile129Asn)	STX16, STX16-NPEPL1 (I125N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587546	NM_001001433.3(STX16):c.352G>A (p.Glu118Lys)	STX16, STX16-NPEPL1 (E101K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587545	NM_001001433.3(STX16):c.349G>A (p.Glu117Lys)	STX16-NPEPL1, STX16 (E113K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587544	NM_001001433.3(STX16):c.286A>G (p.Met96Val)	STX16-NPEPL1, STX16 (M43V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587543	NM_001001433.3(STX16):c.274A>G (p.Ile92Val)	STX16, STX16-NPEPL1 (I39V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587542	NM_001001433.3(STX16):c.271C>T (p.Arg91Trp)	STX16, STX16-NPEPL1 (R91W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587541	NM_001001433.3(STX16):c.234G>C (p.Trp78Cys)	STX16, STX16-NPEPL1 (W25C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587540	NM_001001433.3(STX16):c.224C>T (p.Pro75Leu)	STX16, STX16-NPEPL1 (P22L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587539	NM_001001433.3(STX16):c.223C>T (p.Pro75Ser)	STX16, STX16-NPEPL1 (P58S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587538	NM_001001433.3(STX16):c.217C>G (p.Arg73Gly)	STX16, STX16-NPEPL1 (R73G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587537	NM_001001433.3(STX16):c.132+6T>A	STX16-NPEPL1, STX16	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587536	NM_001001433.3(STX16):c.132G>A (p.Ala44=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +3 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3587535	NM_001001433.3(STX16):c.31TTG[2] (p.Leu13del)	STX16, STX16-NPEPL1 (L13del)	Microsatellite (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3450948	NM_001001433.3(STX16):c.749T>C (p.Leu250Pro)	STX16, STX16-NPEPL1 (L233P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3450947	NM_001001433.3(STX16):c.713G>A (p.Arg238Gln)	STX16, STX16-NPEPL1 (R217Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3450946	NM_001001433.3(STX16):c.439G>T (p.Ala147Ser)	STX16, STX16-NPEPL1 (A126S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3450945	NM_001001433.3(STX16):c.959T>C (p.Val320Ala)	STX16, STX16-NPEPL1 (V267A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3450944	NM_001001433.3(STX16):c.563A>G (p.Lys188Arg)	STX16, STX16-NPEPL1 (K135R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3450943	NM_001001433.3(STX16):c.340G>A (p.Asp114Asn)	STX16, STX16-NPEPL1 (D110N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3323460	NM_001001433.3(STX16):c.826G>C (p.Glu276Gln)	STX16, STX16-NPEPL1 (E223Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3323459	NM_001001433.3(STX16):c.134A>C (p.Glu45Ala)	STX16, STX16-NPEPL1 (E28A +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3323458	NM_001001433.3(STX16):c.628G>A (p.Asp210Asn)	STX16, STX16-NPEPL1 (D210N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3323457	NM_001001433.3(STX16):c.685A>C (p.Asn229His)	STX16, STX16-NPEPL1 (N176H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3248275	NC_000020.10:g.(?_56993257)_(57967907_?)dup	APCDD1L, ATP5F1E +14 more	Duplication	Adult-onset proximal spinal muscular atrophy, autosomal dominant +1 more	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	LOC125387306, LOC125387307 +638 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3171735	NM_001001433.3(STX16):c.823G>A (p.Val275Ile)	STX16, STX16-NPEPL1 (V254I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3171734	NM_001001433.3(STX16):c.782T>C (p.Ile261Thr)	STX16, STX16-NPEPL1 (I261T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3171733	NM_001001433.3(STX16):c.707G>A (p.Arg236Gln)	STX16, STX16-NPEPL1 (R183Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 3171732	NM_001001433.3(STX16):c.218G>A (p.Arg73Gln)	STX16, STX16-NPEPL1 (R20Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3171731	NM_001001433.3(STX16):c.106C>T (p.Pro36Ser)	STX16, STX16-NPEPL1 (P36S)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3065825	NM_001001433.3(STX16):c.557G>T (p.Arg186Leu)	STX16, STX16-NPEPL1 (R133L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3047152	NM_001001433.3(STX16):c.432G>A (p.Pro144=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	STX16-related disorder	GLikely benign
Select item 2914792	NM_001001433.3(STX16):c.751A>C (p.Asn251His)	STX16, STX16-NPEPL1 (N251H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GConflicting classifications of pathogenicity

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