ClinVar for MedGen (Select 394455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362849	NM_001379110.1(SLC9A6):c.460C>T (p.Arg154Ter)	SLC9A6 (R122* +3 more)	Single nucleotide variant (nonsense)	Christianson syndrome	GPathogenic
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)	not provided +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	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
Select item 2703068	NM_001379110.1(SLC9A6):c.1195-13T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2700231	NM_001379110.1(SLC9A6):c.897C>G (p.Phe299Leu)	SLC9A6 (F267L +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2700067	NM_001379110.1(SLC9A6):c.-5G>C	SLC9A6 (R51T)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2697073	NM_001379110.1(SLC9A6):c.609T>G (p.Phe203Leu)	SLC9A6 (F203L +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2637463	NM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val)	LOC130068747, SLC9A6 (I107V +1 more)	Single nucleotide variant (missense variant)	Christianson syndrome +1 more	GUncertain significance
Select item 2579602	NM_001379110.1(SLC9A6):c.-53G>C	SLC9A6 (G35A)	Single nucleotide variant (missense variant +2 more)	Christianson syndrome +1 more	GUncertain significance
Select item 2502845	NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)	SLC9A6 (G364R +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely pathogenic
Select item 2501836	NM_001379110.1(SLC9A6):c.1735G>A (p.Ala579Thr)	SLC9A6 (A517T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2443320	NM_001379110.1(SLC9A6):c.1306+1G>C	SLC9A6	Single nucleotide variant (splice donor variant)	Christianson syndrome	GUncertain significance
Select item 2436078	NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)	SLC9A6 (M569V +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2436077	NM_001379110.1(SLC9A6):c.1307-8C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GUncertain significance
Select item 2425584	NC_000023.10:g.(?_135104725)_(135104876_?)del	SLC9A6	Deletion	Christianson syndrome	GPathogenic
Select item 2425583	NC_000023.10:g.(?_135080247)_(135126903_?)dup	SLC9A6	Duplication	Christianson syndrome	GUncertain significance
Select item 2425582	NC_000023.10:g.(?_135104725)_(135106662_?)del	SLC9A6	Deletion	Christianson syndrome	GPathogenic
Select item 2415038	NM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val)	SLC9A6 (I369V +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2414702	NM_001379110.1(SLC9A6):c.744-12T>C	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2189464	NM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys)	SLC9A6 (Y493C +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2186339	NM_001379110.1(SLC9A6):c.1307-20C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2165196	NM_001379110.1(SLC9A6):c.660C>T (p.His220=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2158576	NM_001379110.1(SLC9A6):c.1875C>T (p.Ser625=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2152353	NM_001379110.1(SLC9A6):c.638-2A>G	SLC9A6	Single nucleotide variant (splice acceptor variant)	Christianson syndrome	GLikely pathogenic
Select item 2145646	NM_001379110.1(SLC9A6):c.-56-54G>T	LOC130068746, SLC9A6 (G16V)	Single nucleotide variant (missense variant +1 more)	Christianson syndrome	GUncertain significance
Select item 2145570	NM_001379110.1(SLC9A6):c.1059G>A (p.Glu353=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GBenign
Select item 2134449	NM_001379110.1(SLC9A6):c.1900A>G (p.Ser634Gly)	SLC9A6 (S624G +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GLikely benign
Select item 2129374	NM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly)	SLC9A6 (A543G +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2126482	NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)	SLC9A6 (W370* +3 more)	Single nucleotide variant (nonsense)	Christianson syndrome	GPathogenic
Select item 2124209	NM_001379110.1(SLC9A6):c.657C>T (p.Phe219=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2108348	NM_001379110.1(SLC9A6):c.-56-17T>G	SLC9A6	Single nucleotide variant (synonymous variant +1 more)	Christianson syndrome	GLikely benign
Select item 2106737	NM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp)	SLC9A6 (G363D +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2106384	NM_001379110.1(SLC9A6):c.1746C>G (p.Leu582=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2101837	NM_001379110.1(SLC9A6):c.492T>C (p.Phe164=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign
Select item 2097108	NM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg)	SLC9A6 (G346R +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2091349	NM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val)	SLC9A6 (I324V +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2082986	NM_001379110.1(SLC9A6):c.1767+9G>A	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2057956	NM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg)	SLC9A6 (Q190R +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2057519	NM_001379110.1(SLC9A6):c.170-11C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2052368	NM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile)	SLC9A6 (V589I +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2045219	NM_001379110.1(SLC9A6):c.1551-19C>T	SLC9A6	Single nucleotide variant (intron variant)	Christianson syndrome	GLikely benign
Select item 2044360	NM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr)	SLC9A6 (S562Y +4 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 2033159	NM_001379110.1(SLC9A6):c.1338C>T (p.Ala446=)	SLC9A6	Single nucleotide variant (synonymous variant)	Christianson syndrome	GLikely benign

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