ClinVar for MedGen (Select 394455) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 435

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767137	SLC9A6, 3-BP DEL, NT1357	SLC9A6	Deletion	Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment +1 more	GPathogenic
Select item 3767135	SLC9A6, 1-BP INS, NT1464	SLC9A6	Insertion	Christianson syndrome	GPathogenic
Select item 3727176	NM_001379110.1(SLC9A6):c.1590T>A (p.Pro530=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3724486	NM_001379110.1(SLC9A6):c.1680G>A (p.Leu560=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3723865	NM_001379110.1(SLC9A6):c.1768-17dup	SLC9A6	Duplication (intron variant)	Christianson syndrome	GLikely benign
Select item 3714501	NM_001379110.1(SLC9A6):c.1194+16T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3709143	NM_001379110.1(SLC9A6):c.64C>G (p.Leu22Val)	LOC130068747, SLC9A6 (L74V +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3703573	NM_001379110.1(SLC9A6):c.79C>G (p.Leu27Val)	LOC130068747, SLC9A6 (L27V +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3703049	NM_001379110.1(SLC9A6):c.-57+59C>T	LOC130068746, SLC9A6 (R12C)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 3695714	NM_001379110.1(SLC9A6):c.885+14A>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3695299	NM_001379110.1(SLC9A6):c.1194+15G>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3692577	NM_001379110.1(SLC9A6):c.2004A>G (p.Leu668=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3687427	NM_001379110.1(SLC9A6):c.1899C>T (p.Asn633=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3686755	NM_001379110.1(SLC9A6):c.1081-3C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GUncertain significance
Select item 3681453	NM_001379110.1(SLC9A6):c.21C>T (p.Ser7=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3679703	NM_001379110.1(SLC9A6):c.-57+54C>T	LOC130068746, SLC9A6 (P10L)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 3666474	NM_001379110.1(SLC9A6):c.401T>A (p.Ile134Lys)	SLC9A6 (I134K +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3663354	NM_001379110.1(SLC9A6):c.2011T>G (p.Leu671Val)	SLC9A6 (L609V +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3659147	NM_001379110.1(SLC9A6):c.29A>G (p.Gln10Arg)	SLC9A6 (Q10R +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3658931	NM_001379110.1(SLC9A6):c.743+11_743+14del	SLC9A6	Microsatellite (intron variant)	Christianson syndrome	GLikely benign
Select item 3657378	NM_001379110.1(SLC9A6):c.736C>T (p.Leu246=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3656570	NM_001379110.1(SLC9A6):c.593C>G (p.Thr198Arg)	SLC9A6 (T166R +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3656306	NM_001379110.1(SLC9A6):c.1008G>A (p.Leu336=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3655622	NM_001379110.1(SLC9A6):c.1418_1419del (p.Phe473fs)	SLC9A6 (F473fs +3 more)	Deletion (frameshift variant)	Christianson syndrome	GPathogenic
Select item 3655414	NM_001379110.1(SLC9A6):c.1186G>T (p.Gly396Ter)	SLC9A6 (G396* +3 more)	Single nucleotide variant (nonsense)	Christianson syndrome	GPathogenic
Select item 3655112	NM_001379110.1(SLC9A6):c.740C>T (p.Ser247Phe)	SLC9A6 (S299F +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3651049	NM_001379110.1(SLC9A6):c.1709C>T (p.Thr570Ile)	SLC9A6 (T570I +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3649667	NM_001379110.1(SLC9A6):c.743C>T (p.Ser248Phe)	SLC9A6 (S300F +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3646105	NM_001379110.1(SLC9A6):c.1582-6C>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3642714	NM_001379110.1(SLC9A6):c.119A>T (p.Lys40Met)	LOC130068747, SLC9A6 (K92M +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3642466	NM_001379110.1(SLC9A6):c.1307-9C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3639982	NM_001379110.1(SLC9A6):c.570A>C (p.Gln190His)	SLC9A6 (Q158H +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3629109	NM_001379110.1(SLC9A6):c.-45G>A	SLC9A6 (D38N)	Single nucleotide variant (missense variant +2 more)	Christianson syndrome	GUncertain significance
Select item 3623603	NM_001379110.1(SLC9A6):c.1940A>G (p.Asp647Gly)	SLC9A6 (D585G +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3617861	NM_001379110.1(SLC9A6):c.153C>T (p.Gly51=)	LOC130068747, SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 3615702	NM_001379110.1(SLC9A6):c.800C>T (p.Ala267Val)	SLC9A6 (A235V +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3614980	NM_001379110.1(SLC9A6):c.992-4A>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GBenign
Select item 3612219	NM_001379110.1(SLC9A6):c.744-18G>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 3391245	NM_001379110.1(SLC9A6):c.1871C>G (p.Ser624Cys)	SLC9A6 (S562C +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3377350	NM_001379110.1(SLC9A6):c.1313G>T (p.Arg438Leu)	SLC9A6 (R406L +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 3362849	NM_001379110.1(SLC9A6):c.460C>T (p.Arg154Ter)	SLC9A6 (R122* +3 more)	Single nucleotide variant (nonsense)	Christianson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3362567	NM_001379110.1(SLC9A6):c.1625_1643del (p.Ala542fs)	SLC9A6 (A480fs +4 more)	Deletion (frameshift variant)	Christianson syndrome	GLikely pathogenic
Select item 3341161	NM_001379110.1(SLC9A6):c.413C>A (p.Pro138His)	SLC9A6 (P106H +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely pathogenic
Select item 3245253	NC_000023.10:g.(?_135080247)_(135084392_?)dup	SLC9A6	Duplication	Christianson syndrome	GLikely pathogenic
Select item 3245242	NC_000023.10:g.(?_135067662)_(135084392_?)dup	SLC9A6	Duplication	Christianson syndrome	GUncertain significance
Select item 3245230	NC_000023.10:g.(?_135067662)_(135126883_?)dup	SLC9A6	Duplication	Christianson syndrome	GUncertain significance
Select item 3245220	NC_000023.10:g.(?_135112271)_(135112341_?)del	SLC9A6	Deletion	Christianson syndrome	GPathogenic
Select item 3245211	NC_000023.10:g.(?_135067662)_(135126883_?)del	SLC9A6	Deletion	Christianson syndrome	GPathogenic
Select item 3014086	NM_001379110.1(SLC9A6):c.169+18T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2994481	NM_001379110.1(SLC9A6):c.2037C>T (p.Ala679=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2913591	NM_001379110.1(SLC9A6):c.1767+4A>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GUncertain significance
Select item 2913231	NM_001379110.1(SLC9A6):c.1359T>C (p.Tyr453=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2911181	NM_001379110.1(SLC9A6):c.1454A>G (p.His485Arg)	SLC9A6 (H453R +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 2904862	NM_001379110.1(SLC9A6):c.159T>A (p.Ala53=)	LOC130068747, SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2898806	NM_001379110.1(SLC9A6):c.459T>C (p.Phe153=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2895446	NM_001379110.1(SLC9A6):c.-57+39G>C	LOC130068746, SLC9A6 (G5A)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2892963	NM_001379110.1(SLC9A6):c.1307-13T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GBenign
Select item 2877002	NM_001379110.1(SLC9A6):c.1460+20C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2875849	NM_001379110.1(SLC9A6):c.828T>C (p.Leu276=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2875231	NM_001379110.1(SLC9A6):c.1080+7G>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2867256	NM_001379110.1(SLC9A6):c.283A>G (p.Ser95Gly)	SLC9A6 (S95G +1 more)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GLikely benign
Select item 2866168	NM_001379110.1(SLC9A6):c.1195-9T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2858602	NM_001379110.1(SLC9A6):c.133C>T (p.Arg45Cys)	LOC130068747, SLC9A6 (R45C +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2856633	NM_001379110.1(SLC9A6):c.936G>C (p.Leu312=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2847590	NM_001379110.1(SLC9A6):c.1438A>G (p.Met480Val)	SLC9A6 (M500V +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2846648	NM_001379110.1(SLC9A6):c.1684dup (p.His562fs)	SLC9A6 (H500fs +4 more)	Duplication (frameshift variant)	Christianson syndrome	GPathogenic
Select item 2845137	NM_001379110.1(SLC9A6):c.1921C>T (p.Arg641Trp)	SLC9A6 (R641W +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2842942	NM_001379110.1(SLC9A6):c.638-18A>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2829254	NM_001379110.1(SLC9A6):c.1551-9C>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2824552	NM_001379110.1(SLC9A6):c.601C>T (p.Leu201=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2821775	NM_001379110.1(SLC9A6):c.-56-22C>T	SLC9A6 (P27S)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2819573	NM_001379110.1(SLC9A6):c.750A>G (p.Ile250Met)	SLC9A6 (I218M +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2816465	NM_001379110.1(SLC9A6):c.1700T>C (p.Leu567Pro)	SLC9A6 (L537P +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 2814239	NM_001379110.1(SLC9A6):c.445del (p.Arg149fs)	SLC9A6 (R169fs +3 more)	Deletion (frameshift variant)	Christianson syndrome	GPathogenic
Select item 2813829	NM_001379110.1(SLC9A6):c.1183G>A (p.Val395Ile)	SLC9A6 (V447I +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2812327	NM_001379110.1(SLC9A6):c.819G>A (p.Gly273=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2810625	NM_001379110.1(SLC9A6):c.1690G>C (p.Gly564Arg)	SLC9A6 (G534R +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2808610	NM_001379110.1(SLC9A6):c.15C>A (p.Ile5=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2802710	NM_001379110.1(SLC9A6):c.1171C>A (p.Pro391Thr)	SLC9A6 (P443T +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2794537	NM_001379110.1(SLC9A6):c.1581+16del	SLC9A6	Deletion (intron variant)	Christianson syndrome	GBenign
Select item 2790877	NM_001379110.1(SLC9A6):c.1572A>G (p.Gln524=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2789752	NM_001379110.1(SLC9A6):c.450A>G (p.Arg150=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2786922	NM_001379110.1(SLC9A6):c.1348A>G (p.Thr450Ala)	SLC9A6 (T470A +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2785021	NM_001379110.1(SLC9A6):c.447+20A>G	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2778949	NM_001379110.1(SLC9A6):c.169+14C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2778608	NM_001379110.1(SLC9A6):c.54C>T (p.Asp18=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2777157	NM_001379110.1(SLC9A6):c.1768-13T>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2776514	NM_001379110.1(SLC9A6):c.533T>C (p.Met178Thr)	SLC9A6 (M146T +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2764893	NM_001379110.1(SLC9A6):c.663G>A (p.Glu221=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2758237	NM_001379110.1(SLC9A6):c.622T>A (p.Ser208Thr)	SLC9A6 (S208T +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2754385	NM_001379110.1(SLC9A6):c.169+8C>T	LOC130068747, SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2752882	NM_001379110.1(SLC9A6):c.1662-6C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2743427	NM_001379110.1(SLC9A6):c.1817G>T (p.Gly606Val)	SLC9A6 (G576V +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2741663	NM_001379110.1(SLC9A6):c.-56-56C>A	LOC130068746, SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 2732637	NM_001379110.1(SLC9A6):c.169+15C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2726394	NM_001379110.1(SLC9A6):c.-56-55G>C	LOC130068746, SLC9A6 (G16R)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2719952	NM_001379110.1(SLC9A6):c.-23G>A	SLC9A6 (G45D)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2707134	NM_001379110.1(SLC9A6):c.980G>A (p.Trp327Ter)	SLC9A6 (W295* +3 more)	Single nucleotide variant (nonsense)	Christianson syndrome	GPathogenic
Select item 2706940	NM_001379110.1(SLC9A6):c.1278A>G (p.Ser426=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2705412	NM_001379110.1(SLC9A6):c.208G>T (p.Val70Phe)	SLC9A6 (V122F +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance

<< First< Prev

Page of 5