SLC8A1-AS1[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 150061	GRCh38/hg38 2p22.1(chr2:39852759-40111879)x1	LOC120961746, LOC126806197 +3 more	Copy number loss	See cases	GLikely benign
Select item 57359	GRCh38/hg38 2p22.1(chr2:39979140-40669741)x3	LOC120961746, LOC120961747 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2320650	NM_021097.5(SLC8A1):c.2891T>C (p.Leu964Pro)	SLC8A1, SLC8A1-AS1 (L929P +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363857	NM_021097.5(SLC8A1):c.2846G>T (p.Cys949Phe)	SLC8A1, SLC8A1-AS1 (C936F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165633	NM_021097.5(SLC8A1):c.2830A>G (p.Lys944Glu)	SLC8A1, SLC8A1-AS1 (K908E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344243	NM_021097.5(SLC8A1):c.2821C>T (p.Arg941Trp)	SLC8A1, SLC8A1-AS1 (R905W +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734794	NM_021097.5(SLC8A1):c.2785C>A (p.Arg929=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165632	NM_021097.5(SLC8A1):c.2770G>A (p.Val924Met)	SLC8A1, SLC8A1-AS1 (V911M +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781601	NM_021097.5(SLC8A1):c.2715C>A (p.Gly905=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349241	NM_021097.5(SLC8A1):c.2708C>T (p.Ser903Phe)	SLC8A1, SLC8A1-AS1 (S890F +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483476	NM_021097.5(SLC8A1):c.2687A>T (p.Asn896Ile)	SLC8A1, SLC8A1-AS1 (N888I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741256	NM_021097.5(SLC8A1):c.2625G>A (p.Ala875=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2523895	NM_021097.5(SLC8A1):c.2584T>C (p.Tyr862His)	SLC8A1, SLC8A1-AS1 (Y827H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465356	NM_021097.5(SLC8A1):c.2472C>G (p.His824Gln)	SLC8A1, SLC8A1-AS1 (H789Q +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 742964	NM_021097.5(SLC8A1):c.2451C>T (p.Phe817=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165631	NM_021097.5(SLC8A1):c.2374G>A (p.Val792Ile)	SLC8A1, SLC8A1-AS1 (V763I +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165630	NM_021097.5(SLC8A1):c.2329G>T (p.Val777Leu)	SLC8A1, SLC8A1-AS1 (V742L +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245476	NM_021097.5(SLC8A1):c.2283C>G (p.Asp761Glu)	SLC8A1, SLC8A1-AS1 (D726E +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726605	NM_021097.5(SLC8A1):c.2256C>T (p.Ile752=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2406541	NM_021097.5(SLC8A1):c.2254A>G (p.Ile752Val)	SLC8A1, SLC8A1-AS1 (I716V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650848	NM_021097.5(SLC8A1):c.2175T>A (p.Thr725=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2253142	NM_021097.5(SLC8A1):c.2089C>T (p.Arg697Cys)	SLC8A1, SLC8A1-AS1 (R668C +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734795	NM_021097.5(SLC8A1):c.2040C>T (p.Asp680=)	SLC8A1, SLC8A1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650849	NM_021097.5(SLC8A1):c.1915+561G>A	SLC8A1, SLC8A1-AS1 (R613H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2617136	NM_021097.5(SLC8A1):c.1899G>C (p.Glu633Asp)	SLC8A1, SLC8A1-AS1 (E633D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165629	NM_021097.5(SLC8A1):c.1816A>G (p.Ile606Val)	SLC8A1, SLC8A1-AS1 (I606V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 30