ClinVar for Gene (Select 23181) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3082432	NM_015151.4(DIP2A):c.995C>G (p.Pro332Arg)	DIP2A (P333R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082431	NM_015151.4(DIP2A):c.787G>A (p.Val263Ile)	DIP2A (V180I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082430	NM_015151.4(DIP2A):c.704C>T (p.Ser235Leu)	DIP2A (S152L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082429	NM_015151.4(DIP2A):c.458C>T (p.Thr153Ile)	DIP2A (T153I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082427	NM_015151.4(DIP2A):c.3685G>A (p.Val1229Met)	DIP2A (V1225M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082426	NM_015151.4(DIP2A):c.3418G>A (p.Val1140Ile)	DIP2A (V1141I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082425	NM_015151.4(DIP2A):c.3352G>A (p.Val1118Met)	DIP2A (V1118M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082424	NM_015151.4(DIP2A):c.3347C>T (p.Ala1116Val)	DIP2A (A1116V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082423	NM_015151.4(DIP2A):c.3157G>A (p.Val1053Met)	DIP2A (V1053M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082422	NM_015151.4(DIP2A):c.3041C>A (p.Thr1014Lys)	DIP2A (T1014K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082421	NM_015151.4(DIP2A):c.2935G>A (p.Asp979Asn)	DIP2A (D975N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082419	NM_015151.4(DIP2A):c.27G>C (p.Glu9Asp)	DIP2A (E9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082418	NM_015151.4(DIP2A):c.2785A>T (p.Met929Leu)	DIP2A (M925L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082417	NM_015151.4(DIP2A):c.2684T>C (p.Val895Ala)	DIP2A (V891A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082416	NM_015151.4(DIP2A):c.2560C>T (p.Arg854Trp)	DIP2A (R854W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082415	NM_015151.4(DIP2A):c.2458A>G (p.Asn820Asp)	DIP2A (N820D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082414	NM_015151.4(DIP2A):c.2389G>A (p.Gly797Arg)	DIP2A (G793R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082413	NM_015151.4(DIP2A):c.2221A>C (p.Lys741Gln)	DIP2A (K658Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082412	NM_015151.4(DIP2A):c.2155G>A (p.Val719Ile)	DIP2A (V720I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082411	NM_015151.4(DIP2A):c.2133G>T (p.Leu711Phe)	DIP2A (L668F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082410	NM_015151.4(DIP2A):c.1831A>G (p.Met611Val)	DIP2A (M607V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082409	NM_015151.4(DIP2A):c.1810G>A (p.Ala604Thr)	DIP2A (A521T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082408	NM_015151.4(DIP2A):c.1610G>A (p.Arg537Gln)	DIP2A (R537Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3060508	NM_015151.4(DIP2A):c.2079G>A (p.Leu693=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3060466	NM_015151.4(DIP2A):c.2840-8G>A	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GBenign
Select item 3060309	NM_015151.4(DIP2A):c.3249A>G (p.Thr1083=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3060086	NM_015151.4(DIP2A):c.2763G>A (p.Thr921=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3060043	NM_015151.4(DIP2A):c.174A>G (p.Pro58=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3055869	NM_015151.4(DIP2A):c.1115G>A (p.Ser372Asn)	DIP2A (S289N +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GBenign
Select item 3055482	NM_015151.4(DIP2A):c.4233C>T (p.Ala1411=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3053656	NM_015151.4(DIP2A):c.2878G>T (p.Ala960Ser)	DIP2A (A956S +2 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GLikely benign
Select item 3053234	NM_015151.4(DIP2A):c.91+8G>A	DIP2A, LOC130066882	Single nucleotide variant (intron variant)	DIP2A-related disorder	GLikely benign
Select item 3053076	NM_015151.4(DIP2A):c.2088C>T (p.Asn696=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GLikely benign
Select item 3052984	NM_015151.4(DIP2A):c.1708-5C>G	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GBenign
Select item 3052486	NM_015151.4(DIP2A):c.1707+7G>A	DIP2A	Single nucleotide variant (intron variant)	DIP2A-related disorder	GLikely benign
Select item 3043790	NM_015151.4(DIP2A):c.2637+29G>A	DIP2A (R889Q)	Single nucleotide variant (missense variant +1 more)	DIP2A-related disorder	GLikely benign
Select item 3043705	NM_015151.4(DIP2A):c.998C>T (p.Pro333Leu)	DIP2A (P250L +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3038865	NM_015151.4(DIP2A):c.1283T>C (p.Ile428Thr)	DIP2A (I345T +4 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GLikely benign
Select item 3036889	NM_015151.4(DIP2A):c.3778G>T (p.Ala1260Ser)	DIP2A (A1256S +2 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 3035876	NM_015151.4(DIP2A):c.2388C>T (p.Ile796=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GBenign
Select item 3035031	NM_015151.4(DIP2A):c.4698T>C (p.Tyr1566=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GLikely benign
Select item 3034675	NM_015151.4(DIP2A):c.3933G>A (p.Thr1311=)	DIP2A	Single nucleotide variant (synonymous variant)	DIP2A-related disorder	GLikely benign
Select item 3031750	NM_015151.4(DIP2A):c.189G>T (p.Glu63Asp)	DIP2A (E63D)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 2688932	NM_015151.4(DIP2A):c.2710C>T (p.Pro904Ser)	DIP2A (P900S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688931	NM_015151.4(DIP2A):c.1919C>T (p.Pro640Leu)	DIP2A (P557L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688930	NM_015151.4(DIP2A):c.3701C>T (p.Ser1234Leu)	DIP2A (S1230L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688929	NM_015151.4(DIP2A):c.4573C>T (p.His1525Tyr)	DIP2A (H1521Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688928	NM_015151.4(DIP2A):c.2395-2A>G	DIP2A	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2685671	GRCh37/hg19 21q22.3(chr21:47906965-48097372)x1	DIP2A, PRMT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2652833	NM_015151.4(DIP2A):c.2481C>T (p.Thr827=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652832	NM_015151.4(DIP2A):c.2026G>A (p.Ala676Thr)	DIP2A (A593T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652831	NM_015151.4(DIP2A):c.378G>A (p.Ser126=)	DIP2A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2652830	NM_015151.4(DIP2A):c.109G>A (p.Gly37Arg)	DIP2A (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635747	NM_015151.4(DIP2A):c.3076G>T (p.Ala1026Ser)	DIP2A (A1022S +2 more)	Single nucleotide variant (missense variant)	DIP2A-related disorder	GUncertain significance
Select item 2630775	NM_015151.4(DIP2A):c.4206del (p.Val1403fs)	DIP2A (V1399fs +3 more)	Deletion (frameshift variant)	DIP2A-related disorder	GUncertain significance
Select item 2619912	NM_015151.4(DIP2A):c.1559G>A (p.Gly520Asp)	DIP2A (G477D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617787	NM_015151.4(DIP2A):c.3812A>C (p.Asn1271Thr)	DIP2A (N1267T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603202	NM_015151.4(DIP2A):c.377C>T (p.Ser126Leu)	DIP2A (S126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600371	NM_015151.4(DIP2A):c.443G>A (p.Arg148Gln)	DIP2A (R148Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596168	NM_015151.4(DIP2A):c.3091G>A (p.Ala1031Thr)	DIP2A (A1032T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570054	NM_015151.4(DIP2A):c.467C>T (p.Pro156Leu)	DIP2A (P156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555264	NM_015151.4(DIP2A):c.1811C>T (p.Ala604Val)	DIP2A (A600V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543788	NM_015151.4(DIP2A):c.2021C>T (p.Thr674Ile)	DIP2A (T675I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543154	NM_015151.4(DIP2A):c.4653G>A (p.Met1551Ile)	DIP2A (M1561I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539358	NM_015151.4(DIP2A):c.4385T>A (p.Leu1462Gln)	DIP2A (L1458Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537602	NM_015151.4(DIP2A):c.1234A>G (p.Met412Val)	DIP2A (M408V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537437	NM_015151.4(DIP2A):c.516G>C (p.Gln172His)	DIP2A (Q172H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534892	NM_015151.4(DIP2A):c.4484A>G (p.Asn1495Ser)	DIP2A (N1496S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522308	NM_015151.4(DIP2A):c.4133A>G (p.Lys1378Arg)	DIP2A (K1379R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518166	NM_015151.4(DIP2A):c.1960C>A (p.Gln654Lys)	DIP2A (Q571K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516500	NM_015151.4(DIP2A):c.256G>A (p.Ala86Thr)	DIP2A (A86T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514091	NM_015151.4(DIP2A):c.2169G>A (p.Met723Ile)	DIP2A (M724I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510509	NM_015151.4(DIP2A):c.2863G>A (p.Val955Met)	DIP2A (V955M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487285	NM_015151.4(DIP2A):c.701A>G (p.His234Arg)	DIP2A (H151R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464379	NM_015151.4(DIP2A):c.694G>A (p.Val232Met)	DIP2A (V233M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463438	NM_015151.4(DIP2A):c.976A>C (p.Thr326Pro)	DIP2A (T283P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455514	NM_015151.4(DIP2A):c.2762C>T (p.Thr921Met)	DIP2A (T917M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2430080	NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)	DIP2A (H1478Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429948	NM_015151.4(DIP2A):c.1429+2T>G	DIP2A	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2429832	NM_015151.4(DIP2A):c.850A>C (p.Lys284Gln)	DIP2A (K201Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2409858	NM_015151.4(DIP2A):c.193A>G (p.Arg65Gly)	DIP2A (R65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406584	NM_015151.4(DIP2A):c.2626C>T (p.Arg876Cys)	DIP2A (R877C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403792	NM_015151.4(DIP2A):c.2494G>A (p.Glu832Lys)	DIP2A (E749K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2399686	NM_015151.4(DIP2A):c.4025A>G (p.His1342Arg)	DIP2A (H1338R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391768	NM_015151.4(DIP2A):c.3241G>A (p.Gly1081Ser)	DIP2A (G1077S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388772	NM_015151.4(DIP2A):c.2584C>T (p.Arg862Trp)	DIP2A (R858W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383524	NM_015151.4(DIP2A):c.3509C>T (p.Ala1170Val)	DIP2A (A1166V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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