ClinVar for Gene (Select 6344) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062636	GRCh37/hg19 2q14.2(chr2:120273496-120842237)x3	EPB41L5, PTPN4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 2595670	NM_002980.3(SCTR):c.170T>C (p.Leu57Pro)	SCTR (L57P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555972	NM_002980.3(SCTR):c.512A>T (p.His171Leu)	SCTR (H171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548280	NM_002980.3(SCTR):c.622T>C (p.Cys208Arg)	SCTR (C208R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536989	NM_002980.3(SCTR):c.248G>A (p.Arg83Gln)	SCTR, SCTR-AS1 (R83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517346	NM_002980.3(SCTR):c.605C>T (p.Ser202Leu)	SCTR (S202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492176	NM_002980.3(SCTR):c.404G>A (p.Arg135Gln)	SCTR (R135Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469942	NM_002980.3(SCTR):c.692C>G (p.Ser231Cys)	SCTR (S231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467038	NM_002980.3(SCTR):c.4C>T (p.Arg2Cys)	SCTR (R2C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464859	NM_002980.3(SCTR):c.389C>T (p.Ser130Phe)	SCTR (S130F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405131	NM_002980.3(SCTR):c.242C>T (p.Pro81Leu)	SCTR-AS1, SCTR (P81L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347566	NM_002980.3(SCTR):c.247C>T (p.Arg83Trp)	SCTR-AS1, SCTR (R83W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326980	NM_002980.3(SCTR):c.213C>A (p.Asp71Glu)	SCTR, SCTR-AS1 (D71E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321228	NM_002980.3(SCTR):c.736A>G (p.Ile246Val)	SCTR (I246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303931	NM_002980.3(SCTR):c.1033C>G (p.Leu345Val)	SCTR (L345V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300051	NM_002980.3(SCTR):c.89G>A (p.Arg30Gln)	SCTR (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259631	NM_002980.3(SCTR):c.770G>A (p.Gly257Glu)	SCTR (G257E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258708	NM_002980.3(SCTR):c.631C>T (p.His211Tyr)	SCTR (H211Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256706	NM_002980.3(SCTR):c.896G>A (p.Arg299His)	SCTR (R299H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255460	NM_002980.3(SCTR):c.881T>G (p.Ile294Ser)	SCTR (I294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255165	NM_002980.3(SCTR):c.1226G>A (p.Arg409His)	SCTR (R409H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809385	GRCh37/hg19 2q14.1-14.3(chr2:116761476-123897262)x1	C1QL2, C2orf76 +21 more	Copy number loss	not provided	GPathogenic
Select item 1808512	GRCh37/hg19 2q14.2(chr2:120079538-120626557)x4	C2orf76, DBI +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341178	GRCh37/hg19 2q14.2(chr2:119967365-121555029)x3	C2orf76, DBI +10 more	Copy number gain	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 814298	GRCh37/hg19 2q14.2-14.3(chr2:118903294-123099547)x1	TMEM177, TFCP2L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 814296	GRCh37/hg19 2q14.1-14.2(chr2:115416190-122399064)x1	TMEM177, C2orf76 +20 more	Copy number loss	not provided	GPathogenic
Select item 785976	NM_002980.3(SCTR):c.1245C>T (p.Pro415=)	SCTR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780356	NM_002980.3(SCTR):c.851+10C>T	SCTR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775755	NM_002980.3(SCTR):c.568C>T (p.Leu190=)	SCTR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717175	NM_002980.3(SCTR):c.639G>A (p.Ala213=)	SCTR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710545	NM_002980.3(SCTR):c.624C>T (p.Cys208=)	SCTR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710544	NM_002980.3(SCTR):c.874G>A (p.Ala292Thr)	SCTR (A292T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708526	NM_002980.3(SCTR):c.328G>A (p.Asp110Asn)	SCTR (D110N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 562675	GRCh37/hg19 2q14.1-14.3(chr2:114707932-124328692)x1	STEAP3, PTPN4 +23 more	Copy number loss	not provided	GPathogenic
Select item 562561	GRCh37/hg19 2q14.2(chr2:120003938-120280012)x3	DBI, TMEM37 +3 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442443	GRCh37/hg19 2q14.1-14.3(chr2:116754600-123897370)x1	C1QL2, C2orf76 +21 more	Copy number loss	See cases	GPathogenic
Select item 442204	GRCh37/hg19 2q13-14.3(chr2:114056441-123673800)x1	ACTR3, C1QL2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
Select item 155658	GRCh38/hg38 2q14.2-14.3(chr2:118687829-121621814)x1	C1QL2, C2orf76 +92 more	Copy number loss	See cases	GPathogenic
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 52