ClinVar for MedGen (Select 57774) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061819	NM_016261.4(TUBD1):c.280T>C (p.Phe94Leu)	TUBD1 (F94L)	Single nucleotide variant (missense variant +2 more)	Polydactyly	GUncertain significance
Select item 1802600	NM_017777.4(MKS1):c.[1115_1117del;1476T>G]	MKS1 (C492W +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	RPL7, RPL8 +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1174576	NM_005585.5(SMAD6):c.1227del (p.Ile410fs)	SMAD6 (I410fs)	Deletion (frameshift variant +1 more)	Polydactyly +1 more	GPathogenic
Select item 1174559	NM_005585.5(SMAD6):c.2T>C (p.Met1Thr)	SMAD6 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1164007	NM_001271938.2(MEGF8):c.7970_7972del (p.Ser2657del)	MEGF8 (S2590del +1 more)	Deletion (inframe_deletion)	Craniosynostosis syndrome +1 more	GLikely pathogenic
Select item 1162784	NM_014209.4(ETV2):c.350del (p.Gly117fs)	ETV2, LOC130064247 (G117fs +1 more)	Deletion (frameshift variant +1 more)	Hypoplastic left heart syndrome +3 more	GLikely pathogenic
Select item 1162783	NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)	ETV2 (D160Y +2 more)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome +3 more	GLikely pathogenic
Select item 1077135	NM_001378615.1(CC2D2A):c.1497del (p.Glu500fs)	CC2D2A (E451fs +1 more)	Deletion (frameshift variant)	Anencephaly +2 more	GLikely pathogenic
Select item 978622	NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs)	CPLANE1 (S2665fs +1 more)	Microsatellite (frameshift variant)	Median cleft lip and palate +3 more	GLikely pathogenic
Select item 978621	NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs)	CPLANE1 (P1236fs)	Indel (frameshift variant)	Median cleft lip and palate +3 more	GLikely pathogenic
Select item 912210	NM_000168.6(GLI3):c.935C>T (p.Thr312Met)	GLI3 (T312M)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GBenign/Likely benign
Select item 912075	NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser)	GLI3 (P653S)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 912025	NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn)	GLI3 (S910N)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +2 more	GUncertain significance
Select item 912024	NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser)	GLI3 (G914S)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 911630	NM_000168.6(GLI3):c.*1470A>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 911564	NM_000168.6(GLI3):c.*2176G>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 911505	NM_000168.6(GLI3):c.*2744T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 911320	NM_000168.6(GLI3):c.288C>T (p.His96=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 911180	NM_000168.6(GLI3):c.-105A>G	GLI3	Single nucleotide variant (5 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 911117	NM_000168.6(GLI3):c.368-7T>G	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +2 more	GBenign/Likely benign
Select item 910858	NM_000168.6(GLI3):c.2004G>A (p.Pro668=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 910687	NM_000168.6(GLI3):c.3786A>G (p.Pro1262=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +1 more	GUncertain significance
Select item 910636	NM_000168.6(GLI3):c.4342G>A (p.Val1448Met)	GLI3 (V1448M)	Single nucleotide variant (missense variant)	Polydactyly +3 more	GLikely benign
Select item 910584	NM_000168.6(GLI3):c.*73C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 910522	NM_000168.6(GLI3):c.*603A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 910409	NM_000168.6(GLI3):c.*1553T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 910291	NM_000168.6(GLI3):c.*2861T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 910290	NM_000168.6(GLI3):c.*3002A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 910150	NM_000168.6(GLI3):c.776C>G (p.Ala259Gly)	GLI3 (A259G)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GConflicting classifications of pathogenicity
Select item 910149	NM_000168.6(GLI3):c.783C>T (p.Ala261=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +2 more	GBenign
Select item 910085	NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr)	GLI3 (A353T)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GConflicting classifications of pathogenicity
Select item 910084	NM_000168.6(GLI3):c.1066T>C (p.Ser356Pro)	GLI3 (S356P)	Single nucleotide variant (missense variant)	Polydactyly +1 more	GUncertain significance
Select item 910024	NM_000168.6(GLI3):c.1540G>A (p.Val514Met)	GLI3 (V514M)	Single nucleotide variant (missense variant)	Polydactyly +5 more	GUncertain significance
Select item 909854	NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu)	GLI3 (P1093L)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +4 more	GUncertain significance
Select item 909650	NM_000168.6(GLI3):c.*248T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 909401	NM_000168.6(GLI3):c.*2517G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909185	NM_000168.6(GLI3):c.21C>T (p.Ser7=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +1 more	GUncertain significance
Select item 909108	NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln)	GLI3 (R792Q)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GUncertain significance
Select item 909047	NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln)	GLI3 (E1014Q)	Single nucleotide variant (missense variant)	Polydactyly +2 more	GUncertain significance
Select item 909046	NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu)	GLI3 (P1022L)	Single nucleotide variant (missense variant)	Polydactyly +1 more	GUncertain significance
Select item 908984	NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp)	GLI3 (G1208W)	Single nucleotide variant (missense variant)	Polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 908916	NM_000168.6(GLI3):c.4008G>A (p.Gly1336=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +4 more	GLikely benign
Select item 908915	NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu)	GLI3 (R1339L)	Single nucleotide variant (missense variant)	Polydactyly +1 more	GUncertain significance
Select item 908861	NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser)	GLI3 (A1543S)	Single nucleotide variant (missense variant)	Polydactyly +1 more	GUncertain significance
Select item 908860	NM_000168.6(GLI3):c.*28C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 908802	NM_000168.6(GLI3):c.*311T>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908801	NM_000168.6(GLI3):c.*332T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 908800	NM_000168.6(GLI3):c.*333A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908799	NM_000168.6(GLI3):c.*386A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908742	NM_000168.6(GLI3):c.*889T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908683	NM_000168.6(GLI3):c.*1332C>T	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908682	NM_000168.6(GLI3):c.*1399T>C	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908613	NM_000168.6(GLI3):c.*2050T>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 908612	NM_000168.6(GLI3):c.*2089G>A	GLI3	Single nucleotide variant (3 prime UTR variant)	Polydactyly +1 more	GUncertain significance
Select item 908536	NM_000168.6(GLI3):c.*2612A>G	GLI3	Single nucleotide variant (3 prime UTR variant)	Greig cephalopolysyndactyly syndrome +1 more	GUncertain significance
Select item 908208	NM_000168.6(GLI3):c.864G>A (p.Pro288=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +2 more	GLikely benign
Select item 908134	NM_000168.6(GLI3):c.1221C>T (p.Ser407=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +3 more	GBenign/Likely benign
Select item 908133	NM_000168.6(GLI3):c.1356+10C>A	GLI3	Single nucleotide variant (intron variant)	Polydactyly +2 more	GBenign
Select item 908068	NM_000168.6(GLI3):c.1648-7T>A	GLI3	Single nucleotide variant (intron variant)	Polydactyly +1 more	GUncertain significance
Select item 766924	NM_000168.6(GLI3):c.825T>C (p.Asp275=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 766814	NM_000168.6(GLI3):c.480C>T (p.Ser160=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +2 more	GLikely benign
Select item 703366	NM_000168.6(GLI3):c.963C>T (p.Leu321=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +3 more	GLikely benign
Select item 549857	Single allele	ASIC4, ATG9A +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 523519	NM_017777.4(MKS1):c.1166-2A>C	MKS1	Single nucleotide variant (splice acceptor variant)	Polydactyly +2 more	GPathogenic
Select item 509379	NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr)	GLI3 (S188Y)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +3 more	GLikely benign
Select item 374019	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	HOXD13 (R274*)	Single nucleotide variant (nonsense)	Syndactyly type 5 +13 more	GPathogenic/Likely pathogenic
Select item 369589	NM_000168.6(GLI3):c.-94C>G	GLI3	Single nucleotide variant (5 prime UTR variant)	Greig cephalopolysyndactyly syndrome +2 more	GBenign
Select item 369588	NM_000168.5(GLI3):c.*3392G>T	GLI3	Single nucleotide variant	Greig cephalopolysyndactyly syndrome +3 more	GBenign
Select item 360268	NM_000168.6(GLI3):c.-83C>T	GLI3	Single nucleotide variant (5 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360267	NM_000168.6(GLI3):c.-78G>T	GLI3	Single nucleotide variant (5 prime UTR variant)	Greig cephalopolysyndactyly syndrome +2 more	GUncertain significance
Select item 360266	NM_000168.6(GLI3):c.-68G>A	GLI3	Single nucleotide variant (5 prime UTR variant)	Polydactyly +2 more	GBenign
Select item 360265	NM_000168.6(GLI3):c.-47C>T	GLI3	Single nucleotide variant (5 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360264	NM_000168.6(GLI3):c.-42-11G>C	GLI3	Single nucleotide variant (intron variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360263	NM_000168.6(GLI3):c.-3A>G	GLI3	Single nucleotide variant (5 prime UTR variant)	Polydactyly +2 more	GUncertain significance
Select item 360262	NM_000168.6(GLI3):c.99C>T (p.Ala33=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +2 more	GBenign/Likely benign
Select item 360261	NM_000168.6(GLI3):c.280C>T (p.Leu94=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360260	NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)	GLI3 (R114K)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +6 more	GBenign/Likely benign
Select item 360259	NM_000168.6(GLI3):c.353T>C (p.Met118Thr)	GLI3 (M118T)	Single nucleotide variant (missense variant)	Polydactyly +2 more	GUncertain significance
Select item 360258	NM_000168.6(GLI3):c.367C>T (p.His123Tyr)	GLI3 (H123Y)	Single nucleotide variant (missense variant)	Polydactyly +4 more	GConflicting classifications of pathogenicity
Select item 360257	NM_000168.6(GLI3):c.411T>C (p.Ile137=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GLikely benign
Select item 360256	NM_000168.6(GLI3):c.444C>T (p.Tyr148=)	GLI3	Single nucleotide variant (synonymous variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360255	NM_000168.6(GLI3):c.474-4C>T	GLI3	Single nucleotide variant (intron variant)	Polydactyly +5 more	GBenign/Likely benign
Select item 360254	NM_000168.6(GLI3):c.501G>A (p.Thr167=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 360253	NM_000168.6(GLI3):c.641C>T (p.Ser214Phe)	GLI3 (S214F)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +2 more	GUncertain significance
Select item 360252	NM_000168.6(GLI3):c.681G>A (p.Ala227=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 360251	NM_000168.6(GLI3):c.748C>T (p.Pro250Ser)	GLI3 (P250S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 360250	NM_000168.6(GLI3):c.827-19dup	GLI3	Duplication (intron variant)	Pallister-Hall syndrome +2 more	GBenign/Likely benign
Select item 360249	NM_000168.6(GLI3):c.827-6T>C	GLI3	Single nucleotide variant (intron variant)	Pallister-Hall syndrome +2 more	GUncertain significance
Select item 360248	NM_000168.6(GLI3):c.961C>T (p.Leu321Phe)	GLI3 (L321F)	Single nucleotide variant (missense variant)	Polydactyly +3 more	GLikely benign
Select item 360247	NM_000168.6(GLI3):c.1028+15G>A	GLI3	Single nucleotide variant (intron variant)	Greig cephalopolysyndactyly syndrome +4 more	GBenign/Likely benign
Select item 360246	NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr)	GLI3 (A488T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 360245	NM_000168.6(GLI3):c.1497C>T (p.His499=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GBenign/Likely benign
Select item 360244	NM_000168.6(GLI3):c.1647+13G>A	GLI3	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 360243	NM_000168.6(GLI3):c.1800G>A (p.Thr600=)	GLI3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 360242	NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser)	GLI3 (T615S)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +2 more	GLikely benign
Select item 360241	NM_000168.6(GLI3):c.1845T>C (p.Thr615=)	GLI3	Single nucleotide variant (synonymous variant)	Pallister-Hall syndrome +2 more	GConflicting classifications of pathogenicity
Select item 360240	NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu)	GLI3 (P653L)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +3 more	GUncertain significance
Select item 360239	NM_000168.6(GLI3):c.2083G>A (p.Val695Ile)	GLI3 (V695I)	Single nucleotide variant (missense variant)	Pallister-Hall syndrome +2 more	GBenign
Select item 360238	NM_000168.6(GLI3):c.2412C>G (p.Val804=)	GLI3	Single nucleotide variant (synonymous variant)	Greig cephalopolysyndactyly syndrome +2 more	GUncertain significance

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