ClinVar for Gene (Select 91464) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286643	NM_001303508.2(ISX):c.324C>G (p.Asp108Glu)	ISX (D108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286642	NM_001303508.2(ISX):c.535G>A (p.Ala179Thr)	ISX (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286641	NM_001303508.2(ISX):c.496G>A (p.Ala166Thr)	ISX (A166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286639	NM_001303508.2(ISX):c.557C>T (p.Pro186Leu)	ISX (P186L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111076	NM_001303508.2(ISX):c.712G>T (p.Gly238Cys)	ISX (G238C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111074	NM_001303508.2(ISX):c.512C>A (p.Thr171Lys)	ISX (T171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111073	NM_001303508.2(ISX):c.412C>T (p.Arg138Trp)	ISX (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111072	NM_001303508.2(ISX):c.335G>A (p.Arg112His)	ISX (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111071	NM_001303508.2(ISX):c.330C>A (p.His110Gln)	ISX (H110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111070	NM_001303508.2(ISX):c.311C>T (p.Thr104Ile)	ISX (T104I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111069	NM_001303508.2(ISX):c.305A>T (p.His102Leu)	ISX (H102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111068	NM_001303508.2(ISX):c.151G>A (p.Gly51Arg)	ISX (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621059	NM_001303508.2(ISX):c.443C>T (p.Ala148Val)	ISX (A148V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603186	NM_001303508.2(ISX):c.617C>T (p.Ala206Val)	ISX (A206V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597043	NM_001303508.2(ISX):c.616G>A (p.Ala206Thr)	ISX (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563832	NM_001303508.2(ISX):c.172G>A (p.Gly58Arg)	ISX (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521921	NM_001303508.2(ISX):c.365C>A (p.Pro122Gln)	ISX (P122Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507917	NM_001303508.2(ISX):c.355A>T (p.Ile119Phe)	ISX (I119F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492310	NM_001303508.2(ISX):c.56G>A (p.Gly19Glu)	ISX (G19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392968	NM_001303508.2(ISX):c.269C>T (p.Thr90Ile)	ISX (T90I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361778	NM_001303508.2(ISX):c.434A>G (p.Asn145Ser)	ISX (N145S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345838	NM_001303508.2(ISX):c.104C>T (p.Ala35Val)	ISX (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338200	NM_001303508.2(ISX):c.460G>A (p.Glu154Lys)	ISX (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283340	NM_001303508.2(ISX):c.325G>C (p.Val109Leu)	ISX (V109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808823	GRCh37/hg19 22q12.3(chr22:35369903-35763314)x3	HMGXB4, ISX +1 more	Copy number gain	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 784560	NM_001303508.2(ISX):c.713G>T (p.Gly238Val)	ISX (G238V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784419	NM_001303508.2(ISX):c.135T>C (p.Asp45=)	ISX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717339	NM_001303508.2(ISX):c.363C>T (p.Leu121=)	ISX	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41