17399[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	LOC130007012, LOC130007013 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC126861364, LOC126861365 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	FRA11B, FXYD2 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 1679646	Single allele	ARHGAP32, LOC126861385 +2 more	Duplication	not provided	GUncertain significance
Select item 2642540	NM_001378024.1(ARHGAP32):c.6300A>G (p.Ala2100=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713706	NM_001378024.1(ARHGAP32):c.6258C>T (p.Pro2086=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2631713	NM_001378024.1(ARHGAP32):c.6248C>T (p.Ala2083Val)	ARHGAP32 (A1720V +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GUncertain significance
Select item 3128778	NM_001378024.1(ARHGAP32):c.6239G>A (p.Gly2080Asp)	ARHGAP32 (G2026D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737499	NM_001378024.1(ARHGAP32):c.6234G>A (p.Ala2078=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3042220	NM_001378024.1(ARHGAP32):c.6172G>A (p.Gly2058Ser)	ARHGAP32 (G1695S +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GLikely benign
Select item 3128777	NM_001378024.1(ARHGAP32):c.6127T>G (p.Tyr2043Asp)	ARHGAP32 (Y1680D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545508	NM_001378024.1(ARHGAP32):c.6110A>G (p.Tyr2037Cys)	ARHGAP32 (Y1674C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333890	NM_001378024.1(ARHGAP32):c.6070C>T (p.His2024Tyr)	ARHGAP32 (H2024Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128776	NM_001378024.1(ARHGAP32):c.6059A>T (p.Gln2020Leu)	ARHGAP32 (Q2020L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720870	NM_001378024.1(ARHGAP32):c.6057C>T (p.Tyr2019=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2356129	NM_001378024.1(ARHGAP32):c.5983C>A (p.Pro1995Thr)	ARHGAP32 (P1632T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060092	NM_001378024.1(ARHGAP32):c.5982C>A (p.Pro1994=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 2406055	NM_001378024.1(ARHGAP32):c.5974G>A (p.Val1992Ile)	ARHGAP32 (V1938I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310248	NM_001378024.1(ARHGAP32):c.5965C>G (p.Gln1989Glu)	ARHGAP32 (Q1935E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055563	NM_001378024.1(ARHGAP32):c.5952A>G (p.Glu1984=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 2309869	NM_001378024.1(ARHGAP32):c.5942A>G (p.Tyr1981Cys)	ARHGAP32 (Y1981C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312793	NM_001378024.1(ARHGAP32):c.5936A>G (p.Asp1979Gly)	ARHGAP32 (D1616G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128775	NM_001378024.1(ARHGAP32):c.5898G>T (p.Trp1966Cys)	ARHGAP32 (W1952C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041632	NM_001378024.1(ARHGAP32):c.5832C>T (p.Ser1944=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 2244804	NM_001378024.1(ARHGAP32):c.5828C>T (p.Ala1943Val)	ARHGAP32 (A1889V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213950	NM_001378024.1(ARHGAP32):c.5735C>T (p.Pro1912Leu)	ARHGAP32 (P1898L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060955	NM_001378024.1(ARHGAP32):c.5703G>A (p.Gln1901=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 2369892	NM_001378024.1(ARHGAP32):c.5603C>A (p.Ser1868Tyr)	ARHGAP32 (S1814Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055483	NM_001378024.1(ARHGAP32):c.5582G>C (p.Ser1861Thr)	ARHGAP32 (S1498T +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GBenign
Select item 2401073	NM_001378024.1(ARHGAP32):c.5506G>A (p.Glu1836Lys)	ARHGAP32 (E1473K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747456	NM_001378024.1(ARHGAP32):c.5505C>T (p.Pro1835=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128774	NM_001378024.1(ARHGAP32):c.5483A>G (p.His1828Arg)	ARHGAP32 (H1814R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379864	NM_001378024.1(ARHGAP32):c.5480G>A (p.Arg1827His)	ARHGAP32 (R1827H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038549	NM_001378024.1(ARHGAP32):c.5451T>C (p.Leu1817=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 2326401	NM_001378024.1(ARHGAP32):c.5405A>G (p.Tyr1802Cys)	ARHGAP32 (Y1788C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254449	NM_001378024.1(ARHGAP32):c.5395G>A (p.Gly1799Ser)	ARHGAP32 (G1799S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281493	NM_001378024.1(ARHGAP32):c.5386G>A (p.Asp1796Asn)	ARHGAP32 (D1796N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511860	NM_001378024.1(ARHGAP32):c.5378C>T (p.Ala1793Val)	ARHGAP32 (A1779V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128773	NM_001378024.1(ARHGAP32):c.5309G>A (p.Arg1770Gln)	ARHGAP32 (R1407Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460227	NM_001378024.1(ARHGAP32):c.5234C>T (p.Pro1745Leu)	ARHGAP32 (P1691L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458829	NM_001378024.1(ARHGAP32):c.5209G>A (p.Asp1737Asn)	ARHGAP32 (D1737N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244701	NM_001378024.1(ARHGAP32):c.5207A>G (p.Asn1736Ser)	ARHGAP32 (N1682S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788574	NM_001378024.1(ARHGAP32):c.5176C>T (p.Arg1726Trp)	ARHGAP32 (R1363W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2476867	NM_001378024.1(ARHGAP32):c.5090G>A (p.Arg1697His)	ARHGAP32 (R1334H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049136	NM_001378024.1(ARHGAP32):c.5082C>T (p.Pro1694=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 2619561	NM_001378024.1(ARHGAP32):c.5039C>T (p.Ala1680Val)	ARHGAP32 (A1680V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603563	NM_001378024.1(ARHGAP32):c.5021A>G (p.Tyr1674Cys)	ARHGAP32 (Y1311C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309043	NM_001378024.1(ARHGAP32):c.4927C>T (p.Arg1643Cys)	ARHGAP32 (R1629C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271613	NM_001378024.1(ARHGAP32):c.4906C>T (p.Pro1636Ser)	ARHGAP32 (P1273S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746993	NM_001378024.1(ARHGAP32):c.4887A>G (p.Arg1629=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2528082	NM_001378024.1(ARHGAP32):c.4883C>T (p.Pro1628Leu)	ARHGAP32 (P1265L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257354	NM_001378024.1(ARHGAP32):c.4858C>T (p.Pro1620Ser)	ARHGAP32 (P1566S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050666	NM_001378024.1(ARHGAP32):c.4812G>A (p.Pro1604=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 798610	NM_001378024.1(ARHGAP32):c.4809G>A (p.Pro1603=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384684	NM_001378024.1(ARHGAP32):c.4775C>G (p.Pro1592Arg)	ARHGAP32 (P1578R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128772	NM_001378024.1(ARHGAP32):c.4756G>A (p.Glu1586Lys)	ARHGAP32 (E1223K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487793	NM_001378024.1(ARHGAP32):c.4745C>G (p.Thr1582Ser)	ARHGAP32 (T1219S +3 more)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 2273710	NM_001378024.1(ARHGAP32):c.4690A>G (p.Lys1564Glu)	ARHGAP32 (K1201E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213949	NM_001378024.1(ARHGAP32):c.4632G>C (p.Met1544Ile)	ARHGAP32 (M1181I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128771	NM_001378024.1(ARHGAP32):c.4586A>C (p.Glu1529Ala)	ARHGAP32 (E1166A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128770	NM_001378024.1(ARHGAP32):c.4526A>G (p.Asn1509Ser)	ARHGAP32 (N1509S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2630291	NM_001378024.1(ARHGAP32):c.4484T>A (p.Val1495Asp)	ARHGAP32 (V1132D +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GUncertain significance
Select item 726477	NM_001378024.1(ARHGAP32):c.4480G>A (p.Asp1494Asn)	ARHGAP32 (D1131N +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2326119	NM_001378024.1(ARHGAP32):c.4477C>G (p.Pro1493Ala)	ARHGAP32 (P1439A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128769	NM_001378024.1(ARHGAP32):c.4466C>G (p.Ser1489Cys)	ARHGAP32 (S1435C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621415	NM_001378024.1(ARHGAP32):c.4309A>G (p.Met1437Val)	ARHGAP32 (M1074V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128768	NM_001378024.1(ARHGAP32):c.4253C>T (p.Ala1418Val)	ARHGAP32 (A1055V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2530558	NM_001378024.1(ARHGAP32):c.4250C>T (p.Pro1417Leu)	ARHGAP32 (P1403L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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