ClinVar for Gene (Select 2520) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280836	NM_000805.5(GAST):c.85C>A (p.Gln29Lys)	GAST (Q29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3098747	NM_000805.5(GAST):c.284G>T (p.Arg95Leu)	GAST (R95L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 2556358	NM_000805.5(GAST):c.230G>A (p.Gly77Glu)	GAST (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511400	NM_000805.5(GAST):c.193C>T (p.Pro65Ser)	GAST (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473648	NM_000805.5(GAST):c.215C>T (p.Pro72Leu)	GAST (P72L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359296	NM_000805.5(GAST):c.155C>A (p.Pro52Gln)	GAST (P52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324463	NM_000805.5(GAST):c.174G>C (p.Arg58Ser)	GAST (R58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276361	NM_000805.5(GAST):c.281G>A (p.Arg94His)	GAST (R94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771026	NM_000805.5(GAST):c.116A>G (p.Asn39Ser)	GAST (N39S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 742174	NM_000805.5(GAST):c.180G>A (p.Leu60=)	GAST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic