ClinVar for Gene (Select 4478) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3347565	NM_002444.3(MSN):c.385G>T (p.Ala129Ser)	MSN (A129S)	Single nucleotide variant (missense variant)	MSN-related disorder	GUncertain significance
Select item 3338194	NM_002444.3(MSN):c.139C>A (p.Leu47Met)	MSN (L47M)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3337322	NM_002444.3(MSN):c.1638_1648del (p.Glu547fs)	MSN (E547fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3296453	NM_002444.3(MSN):c.1645A>G (p.Met549Val)	MSN (M549V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296452	NM_002444.3(MSN):c.1178G>A (p.Arg393His)	MSN (R393H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	GUncertain significance
Select item 3246529	NC_000023.10:g.(?_64887709)_(64887740_?)del	MSN	Deletion	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3212051	NM_002444.3(MSN):c.144G>C (p.Gln48His)	MSN (Q48H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212038	NM_002444.3(MSN):c.1168G>T (p.Ala390Ser)	MSN (A390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3015749	NM_002444.3(MSN):c.208G>T (p.Val70Leu)	MSN (V70L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3015042	NM_002444.3(MSN):c.462G>A (p.Pro154=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010520	NM_002444.3(MSN):c.13-10C>A	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008453	NM_002444.3(MSN):c.123A>G (p.Glu41=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998770	NM_002444.3(MSN):c.1545T>C (p.Asn515=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991694	NM_002444.3(MSN):c.1223G>A (p.Arg408Gln)	MSN (R408Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991682	NM_002444.3(MSN):c.897C>T (p.Thr299=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981348	NM_002444.3(MSN):c.1344+20G>A	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980082	NM_002444.3(MSN):c.539G>A (p.Arg180His)	MSN (R180H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974116	NM_002444.3(MSN):c.1039C>G (p.Leu347Val)	MSN (L347V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969543	NM_002444.3(MSN):c.1592A>T (p.Asn531Ile)	MSN (N531I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965463	NM_002444.3(MSN):c.1251+14G>A	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965161	NM_002444.3(MSN):c.1311G>T (p.Lys437Asn)	MSN (K437N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964819	NM_002444.3(MSN):c.796-3C>T	MSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955349	NM_002444.3(MSN):c.1344+11G>A	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955245	NM_002444.3(MSN):c.834G>A (p.Lys278=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2955005	NM_002444.3(MSN):c.12+10G>A	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908805	NM_002444.3(MSN):c.333C>G (p.Leu111=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901747	NM_002444.3(MSN):c.1438CAGGATGAG[1] (p.480QDE[1])	MSN	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2901233	NM_002444.3(MSN):c.1181A>G (p.Gln394Arg)	MSN (Q394R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2876700	NM_002444.3(MSN):c.453G>C (p.Lys151Asn)	MSN (K151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874025	NM_002444.3(MSN):c.1592A>G (p.Asn531Ser)	MSN (N531S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867199	NM_002444.3(MSN):c.783C>T (p.Asp261=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864984	NM_002444.3(MSN):c.1245A>G (p.Glu415=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854812	NM_002444.3(MSN):c.1344+7C>T	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844601	NM_002444.3(MSN):c.874A>T (p.Met292Leu)	MSN (M292L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841021	NM_002444.3(MSN):c.624C>G (p.Ile208Met)	MSN (I208M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823794	NM_002444.3(MSN):c.1507C>T (p.Arg503Cys)	MSN (R503C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820804	NM_002444.3(MSN):c.1064A>G (p.Glu355Gly)	MSN (E355G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817010	NM_002444.3(MSN):c.12+17_12+18insC	MSN	Insertion (intron variant)	not provided	GLikely benign
Select item 2809952	NM_002444.3(MSN):c.468-18C>T	MSN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804128	NM_002444.3(MSN):c.468-14C>T	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802501	NM_002444.3(MSN):c.1191A>G (p.Glu397=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801307	NM_002444.3(MSN):c.430T>A (p.Ser144Thr)	MSN (S144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799377	NM_002444.3(MSN):c.1062C>T (p.Ile354=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795701	NM_002444.3(MSN):c.689A>G (p.Gln230Arg)	MSN (Q230R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793616	NM_002444.3(MSN):c.1479C>T (p.Asp493=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786523	NM_002444.3(MSN):c.894T>C (p.Asp298=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785924	NM_002444.3(MSN):c.1340A>G (p.Gln447Arg)	MSN (Q447R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780759	NM_002444.3(MSN):c.1262T>C (p.Met421Thr)	MSN (M421T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2760134	NM_002444.3(MSN):c.495G>C (p.Lys165Asn)	MSN (K165N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758905	NM_002444.3(MSN):c.481C>T (p.His161Tyr)	MSN (H161Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758658	NM_002444.3(MSN):c.585_586dup (p.Gln196fs)	MSN (Q196fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2747422	NM_002444.3(MSN):c.318G>C (p.Val106=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745652	NM_002444.3(MSN):c.1177_1203del (p.Arg393_Glu401del)	MSN	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2744083	NM_002444.3(MSN):c.116T>A (p.Leu39Ter)	MSN (L39*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2729282	NM_002444.3(MSN):c.504G>A (p.Trp168Ter)	MSN (W168*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2723528	NM_002444.3(MSN):c.242G>A (p.Arg81His)	MSN (R81H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2718423	NM_002444.3(MSN):c.443C>T (p.Ala148Val)	MSN (A148V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2716025	NM_002444.3(MSN):c.1254C>T (p.Ala418=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714531	NM_002444.3(MSN):c.588A>G (p.Gln196=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705857	NM_002444.3(MSN):c.1229A>C (p.Gln410Pro)	MSN (Q410P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705598	NM_002444.3(MSN):c.846C>G (p.Ala282=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701226	NM_002444.3(MSN):c.1626C>T (p.Asp542=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2701160	NM_002444.3(MSN):c.975T>C (p.Asn325=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700427	NM_002444.3(MSN):c.846C>T (p.Ala282=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694945	NM_002444.3(MSN):c.1090G>A (p.Glu364Lys)	MSN (E364K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681411	NM_002444.3(MSN):c.1603G>T (p.Glu535Ter)	MSN (E535*)	Single nucleotide variant (nonsense)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2662792	NM_002444.3(MSN):c.1439A>C (p.Gln480Pro)	MSN (Q480P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660762	NM_002444.3(MSN):c.922C>G (p.Gln308Glu)	MSN (Q308E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660761	NM_002444.3(MSN):c.13-5C>A	MSN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2613698	NM_002444.3(MSN):c.271G>A (p.Glu91Lys)	MSN (E91K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584545	NM_002444.3(MSN):c.877C>T (p.Arg293Cys)	MSN (R293C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2569311	NM_002444.3(MSN):c.1552G>C (p.Val518Leu)	MSN (V518L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2536697	NM_002444.3(MSN):c.1508G>A (p.Arg503His)	MSN (R503H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2433807	NM_002444.3(MSN):c.1099G>A (p.Glu367Lys)	MSN (E367K)	Single nucleotide variant (missense variant)	MSN-related disorder +1 more	GUncertain significance
Select item 2419280	NM_002444.3(MSN):c.299G>A (p.Arg100His)	MSN (R100H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2417810	NM_002444.3(MSN):c.241C>T (p.Arg81Cys)	MSN (R81C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2417284	NM_002444.3(MSN):c.96+8G>A	MSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2417281	NM_002444.3(MSN):c.1038G>C (p.Glu346Asp)	MSN (E346D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330152	NM_002444.3(MSN):c.884G>A (p.Arg295His)	MSN (R295H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303058	NM_002444.3(MSN):c.58A>G (p.Ile20Val)	MSN (I20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292661	NM_002444.3(MSN):c.122A>G (p.Glu41Gly)	MSN (E41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283244	NM_002444.3(MSN):c.1351A>G (p.Met451Val)	MSN (M451V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255971	NM_002444.3(MSN):c.1570G>A (p.Ala524Thr)	MSN (A524T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250464	NM_002444.3(MSN):c.388G>A (p.Val130Ile)	MSN (V130I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193517	NM_002444.3(MSN):c.270C>T (p.Ser90=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193384	NM_002444.3(MSN):c.1345-3C>T	MSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2190041	NM_002444.3(MSN):c.989G>A (p.Arg330His)	MSN (R330H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173127	NM_002444.3(MSN):c.1063G>A (p.Glu355Lys)	MSN (E355K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2167660	NM_002444.3(MSN):c.768C>A (p.Val256=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2163231	NM_002444.3(MSN):c.1135C>T (p.Arg379Trp)	MSN (R379W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2139115	NM_002444.3(MSN):c.363C>T (p.Thr121=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130284	NM_002444.3(MSN):c.13-1G>A	MSN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2125050	NM_002444.3(MSN):c.93C>T (p.Asp31=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123396	NM_002444.3(MSN):c.755A>G (p.Asp252Gly)	MSN (D252G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121223	NM_002444.3(MSN):c.461C>T (p.Pro154Leu)	MSN (P154L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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