ClinVar for Gene (Select 9921) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2621988	NM_014868.5(RNF10):c.1138G>A (p.Glu380Lys)	RNF10 (E380K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608853	NM_014868.5(RNF10):c.82T>A (p.Ser28Thr)	LOC128071547, RNF10 (S28T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601565	NM_014868.5(RNF10):c.2210G>A (p.Ser737Asn)	RNF10 (S742N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597659	NM_014868.5(RNF10):c.413T>A (p.Ile138Asn)	RNF10 (I138N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596504	NM_014868.5(RNF10):c.2239G>A (p.Asp747Asn)	RNF10 (D752N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592272	NM_014868.5(RNF10):c.461C>T (p.Thr154Met)	RNF10 (T154M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546220	NM_014868.5(RNF10):c.194G>A (p.Arg65His)	RNF10 (R65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534525	NM_014868.5(RNF10):c.65A>G (p.Asn22Ser)	LOC128071547, RNF10 (N22S)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2527848	NM_014868.5(RNF10):c.679A>G (p.Ile227Val)	RNF10 (I227V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517444	NM_014868.5(RNF10):c.1942T>C (p.Tyr648His)	RNF10 (Y648H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485097	NM_014868.5(RNF10):c.1442C>G (p.Thr481Ser)	RNF10 (T481S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479365	NM_014868.5(RNF10):c.878C>T (p.Thr293Met)	RNF10 (T293M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408847	NM_014868.5(RNF10):c.1036C>G (p.Leu346Val)	RNF10 (L346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381654	NM_014868.5(RNF10):c.850C>T (p.His284Tyr)	RNF10 (H284Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375787	NM_014868.5(RNF10):c.1384G>A (p.Gly462Arg)	RNF10 (G467R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363501	NM_014868.5(RNF10):c.1973C>T (p.Pro658Leu)	RNF10 (P663L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355225	NM_014868.5(RNF10):c.2227C>T (p.Pro743Ser)	RNF10 (P743S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337565	NM_014868.5(RNF10):c.247C>T (p.Arg83Cys)	RNF10 (R83C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329502	NM_014868.5(RNF10):c.57C>A (p.Ser19Arg)	LOC128071547, RNF10 (S19R)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313924	NM_014868.5(RNF10):c.2011C>T (p.Pro671Ser)	RNF10 (P671S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287992	NM_014868.5(RNF10):c.904G>A (p.Gly302Arg)	RNF10 (G302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271329	NM_014868.5(RNF10):c.2378A>G (p.Lys793Arg)	RNF10 (K793R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259079	NM_014868.5(RNF10):c.1232A>G (p.Glu411Gly)	RNF10 (E411G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255720	NM_014868.5(RNF10):c.185G>A (p.Arg62His)	RNF10 (R62H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252013	NM_014868.5(RNF10):c.1421A>G (p.Asp474Gly)	RNF10 (D474G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245346	NM_014868.5(RNF10):c.304G>A (p.Gly102Ser)	RNF10 (G102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226770	NM_014868.5(RNF10):c.1924T>C (p.Phe642Leu)	RNF10 (F642L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217483	NM_014868.5(RNF10):c.142T>G (p.Ser48Ala)	LOC128071547, RNF10 (S48A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809497	GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	ACADS, CABP1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 784474	NM_014868.5(RNF10):c.1159G>A (p.Gly387Arg)	RNF10 (G387R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 727629	NM_014868.5(RNF10):c.333T>C (p.Phe111=)	RNF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	ACADS, ANAPC5 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47