99[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335142	NM_183377.2(ASIC2):c.1670C>T (p.Thr557Ile)	ASIC2 (T506I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310951	NM_183377.2(ASIC2):c.1658C>T (p.Thr553Met)	ASIC2 (T553M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266359	NM_183377.2(ASIC2):c.1651C>G (p.Leu551Val)	ASIC2 (L551V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570314	NM_183377.2(ASIC2):c.1648C>T (p.Pro550Ser)	ASIC2 (P499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223421	NM_183377.2(ASIC2):c.1610C>A (p.Pro537Gln)	ASIC2 (P537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130354	NM_183377.2(ASIC2):c.1564G>A (p.Asp522Asn)	ASIC2 (D522N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130353	NM_183377.2(ASIC2):c.1559A>G (p.Glu520Gly)	ASIC2 (E469G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610380	NM_183377.2(ASIC2):c.1511A>G (p.Tyr504Cys)	ASIC2 (Y453C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215459	NM_183377.2(ASIC2):c.1501C>T (p.Leu501Phe)	ASIC2 (L450F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482785	NM_183377.2(ASIC2):c.1293C>G (p.Ser431Arg)	ASIC2 (S380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557080	NM_183377.2(ASIC2):c.1205C>T (p.Ala402Val)	ASIC2 (A351V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130352	NM_183377.2(ASIC2):c.1145C>T (p.Ala382Val)	ASIC2 (A331V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161511	NM_183377.2(ASIC2):c.1129C>A (p.His377Asn)	ASIC2 (H326N +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2375138	NM_183377.2(ASIC2):c.1127T>C (p.Val376Ala)	ASIC2 (V325A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130351	NM_183377.2(ASIC2):c.1099A>G (p.Ile367Val)	ASIC2 (I316V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130350	NM_183377.2(ASIC2):c.1079T>C (p.Ile360Thr)	ASIC2 (I309T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791344	NM_183377.2(ASIC2):c.988-4G>A	ASIC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3236587	NM_183377.2(ASIC2):c.976C>T (p.Gln326Ter)	ASIC2 (Q275* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 735541	NM_183377.2(ASIC2):c.879A>C (p.Ala293=)	ASIC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2205492	NM_183377.2(ASIC2):c.866C>T (p.Thr289Met)	ASIC2 (T289M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371166	NM_183377.2(ASIC2):c.857C>G (p.Thr286Arg)	ASIC2 (T286R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130360	NM_183377.2(ASIC2):c.793G>A (p.Gly265Ser)	ASIC2 (G265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235919	NM_183377.2(ASIC2):c.691C>T (p.Pro231Ser)	ASIC2 (P231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534167	NM_183377.2(ASIC2):c.653T>C (p.Met218Thr)	ASIC2 (M218T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338628	NM_183377.2(ASIC2):c.539C>T (p.Pro180Leu)	ASIC2 (P180L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210261	NM_183377.2(ASIC2):c.519G>C (p.Glu173Asp)	ASIC2 (E173D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310249	NM_183377.2(ASIC2):c.503G>A (p.Arg168His)	ASIC2 (R168H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130358	NM_183377.2(ASIC2):c.466C>T (p.His156Tyr)	ASIC2 (H156Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130355	NM_183377.2(ASIC2):c.376C>A (p.Arg126Ser)	ASIC2 (R126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270644	NM_183377.2(ASIC2):c.271C>A (p.Leu91Met)	ASIC2 (L91M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295932	NM_183377.2(ASIC2):c.260C>T (p.Ala87Val)	ASIC2 (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301161	NM_183377.2(ASIC2):c.187C>T (p.Arg63Cys)	ASIC2 (R63C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531397	NM_183377.2(ASIC2):c.179C>T (p.Ser60Leu)	ASIC2 (S60L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605643	NM_183377.2(ASIC2):c.121G>T (p.Gly41Cys)	ASIC2 (G41C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130359	NM_183377.2(ASIC2):c.70C>G (p.Arg24Gly)	ASIC2 (R24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616982	NM_183377.2(ASIC2):c.65T>G (p.Met22Arg)	ASIC2 (M22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318078	NM_183377.2(ASIC2):c.50C>T (p.Pro17Leu)	ASIC2 (P17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534166	NM_183377.2(ASIC2):c.26T>G (p.Leu9Arg)	ASIC2 (L9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 60139	GRCh38/hg38 17q12(chr17:33642695-34549211)x3	ASIC2, CCL1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 150096	GRCh38/hg38 17q12(chr17:33671097-34595982)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 151580	GRCh38/hg38 17q12(chr17:33671106-34595887)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 146705	GRCh38/hg38 17q12(chr17:33777728-34301601)x3	ASIC2, CCL11 +16 more	Copy number gain	See cases	GUncertain significance
Select item 2329099	NM_001094.5(ASIC2):c.437A>G (p.Tyr146Cys)	ASIC2, LOC105371735 (Y146C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130357	NM_001094.5(ASIC2):c.412C>T (p.Arg138Trp)	ASIC2, LOC105371735 (R138W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3130356	NM_001094.5(ASIC2):c.385G>A (p.Ala129Thr)	ASIC2, LOC105371735 (A129T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2365148	NM_001094.5(ASIC2):c.245A>C (p.Gln82Pro)	ASIC2, LOC105371735 (Q82P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 1526576	GRCh37/hg19 17q12(chr17:31959226-32937658)	ASIC2, CCL1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526573	GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)	ASIC2, C17orf75 +8 more	Copy number loss	not specified	GUncertain significance
Select item 981056	GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)	LRRC37B, CDK5R1 +12 more	Copy number loss	Nanophthalmos 4 +2 more	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685761	GRCh37/hg19 17q12(chr17:31957257-32944153)x3	ASIC2, CCL1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 443455	GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1	ASIC2, C17orf75 +18 more	Copy number loss	See cases	GPathogenic
Select item 442056	GRCh37/hg19 17q12(chr17:31958240-32937658)x3	ASIC2, CCL1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 441921	GRCh37/hg19 17q12(chr17:32064314-32643063)x3	ASIC2, CCL11 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 394456	GRCh37/hg19 17q12(chr17:31982779-32917705)x3	ASIC2, CCL1 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 61