ClinVar for Gene (Select 121274) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197401	NM_001172681.2(ZNF641):c.46A>T (p.Met16Leu)	ZNF641 (M16L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197400	NM_001172681.2(ZNF641):c.793C>T (p.Leu265Phe)	ZNF641 (L256F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197399	NM_001172681.2(ZNF641):c.667C>T (p.Leu223Phe)	ZNF641 (L214F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197398	NM_001172681.2(ZNF641):c.651C>G (p.Ser217Arg)	ZNF641 (S217R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3197397	NM_001172681.2(ZNF641):c.617C>T (p.Pro206Leu)	ZNF641 (P197L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197396	NM_001172681.2(ZNF641):c.577A>T (p.Met193Leu)	ZNF641 (M193L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197395	NM_001172681.2(ZNF641):c.560A>G (p.Glu187Gly)	ZNF641 (E187G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607339	NM_001172681.2(ZNF641):c.526G>C (p.Gly176Arg)	ZNF641 (G190R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555690	NM_001172681.2(ZNF641):c.953A>C (p.Asn318Thr)	ZNF641 (N175T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526712	NM_001172681.2(ZNF641):c.-26+730G>A	ZNF641 (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484458	NM_001172681.2(ZNF641):c.1049G>A (p.Arg350His)	ZNF641 (R350H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458249	NM_001172681.2(ZNF641):c.176A>C (p.Gln59Pro)	ZNF641 (Q59P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456904	NM_001172681.2(ZNF641):c.844A>G (p.Lys282Glu)	ZNF641 (K273E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456527	NM_001172681.2(ZNF641):c.67G>C (p.Ala23Pro)	ZNF641 (A37P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354787	NM_001172681.2(ZNF641):c.626A>G (p.Asp209Gly)	ZNF641 (D200G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273988	NM_001172681.2(ZNF641):c.577A>G (p.Met193Val)	ZNF641 (M184V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243969	NM_001172681.2(ZNF641):c.1124G>A (p.Arg375Lys)	ZNF641 (R375K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227548	NM_001172681.2(ZNF641):c.680C>G (p.Pro227Arg)	ZNF641 (P218R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225845	NM_001172681.2(ZNF641):c.462A>T (p.Gln154His)	ZNF641 (Q11H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219617	NM_001172681.2(ZNF641):c.610T>C (p.Trp204Arg)	ZNF641 (W218R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217913	NM_001172681.2(ZNF641):c.649A>C (p.Ser217Arg)	ZNF641 (S217R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2212427	NM_001172681.2(ZNF641):c.636G>C (p.Trp212Cys)	ZNF641 (W203C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1710515	GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1	AMIGO2, ANO6 +27 more	Copy number loss	not provided	GPathogenic
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +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 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31