ClinVar for Gene (Select 84174) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318757	NM_032214.4(SLA2):c.611T>C (p.Ile204Thr)	SLA2 (I204T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318756	NM_032214.4(SLA2):c.331C>T (p.Pro111Ser)	SLA2 (P111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162699	NM_032214.4(SLA2):c.745A>G (p.Ile249Val)	SLA2 (I249V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3162698	NM_032214.4(SLA2):c.403C>T (p.Arg135Cys)	SLA2 (R135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162697	NM_032214.4(SLA2):c.215T>C (p.Leu72Pro)	SLA2 (L72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162696	NM_032214.4(SLA2):c.209C>G (p.Thr70Arg)	SLA2 (T70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588442	NM_032214.4(SLA2):c.431G>A (p.Arg144Gln)	SLA2 (R144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558484	NM_032214.4(SLA2):c.505C>T (p.Leu169Phe)	SLA2 (L169F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491499	NM_032214.4(SLA2):c.53C>T (p.Ser18Phe)	SLA2 (S18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359305	NM_032214.4(SLA2):c.404G>A (p.Arg135His)	SLA2 (R135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341999	NM_032214.4(SLA2):c.374C>T (p.Thr125Ile)	SLA2 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271718	NM_032214.4(SLA2):c.430C>G (p.Arg144Gly)	SLA2 (R144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247227	NM_032214.4(SLA2):c.574G>A (p.Val192Ile)	SLA2 (V192I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241504	NM_032214.4(SLA2):c.29C>A (p.Ser10Tyr)	SLA2 (S10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219565	NM_032214.4(SLA2):c.340C>G (p.Pro114Ala)	SLA2 (P114A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 781751	NM_032214.4(SLA2):c.131C>T (p.Pro44Leu)	SLA2 (P44L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 781498	NM_032214.4(SLA2):c.628G>A (p.Val210Met)	SLA2 (C193Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25