SLC8A2[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2650149	NM_015063.3(SLC8A2):c.2646C>T (p.Gly882=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310857	NM_015063.3(SLC8A2):c.2539C>G (p.Pro847Ala)	SLC8A2 (P847A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334621	NM_015063.3(SLC8A2):c.2424C>G (p.Asp808Glu)	SLC8A2 (D808E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265253	NM_015063.3(SLC8A2):c.2390-6T>C	SLC8A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2306307	NM_015063.3(SLC8A2):c.2297T>C (p.Ile766Thr)	SLC8A2 (I766T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650150	NM_015063.3(SLC8A2):c.2289C>T (p.Thr763=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2303951	NM_015063.3(SLC8A2):c.2171A>T (p.Tyr724Phe)	SLC8A2 (Y724F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275098	NM_015063.3(SLC8A2):c.2116G>A (p.Glu706Lys)	SLC8A2 (E706K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474381	NM_015063.3(SLC8A2):c.1973G>T (p.Arg658Leu)	SLC8A2 (R658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556767	NM_015063.3(SLC8A2):c.1934T>C (p.Ile645Thr)	SLC8A2 (I645T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165643	NM_015063.3(SLC8A2):c.1928G>A (p.Arg643Gln)	SLC8A2 (R643Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226710	NM_015063.3(SLC8A2):c.1927C>T (p.Arg643Trp)	SLC8A2 (R643W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465752	NM_015063.3(SLC8A2):c.1849C>T (p.Leu617Phe)	SLC8A2 (L617F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165642	NM_015063.3(SLC8A2):c.1795G>A (p.Glu599Lys)	SLC8A2 (E599K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296271	NM_015063.3(SLC8A2):c.1735G>A (p.Glu579Lys)	SLC8A2 (E579K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165641	NM_015063.3(SLC8A2):c.1522G>C (p.Ala508Pro)	SLC8A2 (A508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650151	NM_015063.3(SLC8A2):c.1464C>G (p.Gly488=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650152	NM_015063.3(SLC8A2):c.1461G>C (p.Val487=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257399	NM_015063.3(SLC8A2):c.1264G>C (p.Glu422Gln)	SLC8A2 (E422Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165640	NM_015063.3(SLC8A2):c.1255C>G (p.Gln419Glu)	SLC8A2 (Q419E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165638	NM_015063.3(SLC8A2):c.1234G>C (p.Val412Leu)	SLC8A2 (V412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247395	NM_015063.3(SLC8A2):c.1184G>A (p.Arg395His)	SLC8A2 (R395H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025864	NM_015063.3(SLC8A2):c.1164C>T (p.Asp388=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165637	NM_015063.3(SLC8A2):c.1145C>T (p.Ala382Val)	SLC8A2 (A382V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334337	NM_015063.3(SLC8A2):c.1081A>T (p.Met361Leu)	SLC8A2 (M361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323512	NM_015063.3(SLC8A2):c.1019A>G (p.Tyr340Cys)	SLC8A2 (Y340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788662	NM_015063.3(SLC8A2):c.969G>A (p.Lys323=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239861	NM_015063.3(SLC8A2):c.878G>C (p.Gly293Ala)	SLC8A2 (G293A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276647	NM_015063.3(SLC8A2):c.803T>G (p.Ile268Ser)	SLC8A2 (I268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276646	NM_015063.3(SLC8A2):c.802A>G (p.Ile268Val)	SLC8A2 (I268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395295	NM_015063.3(SLC8A2):c.664G>A (p.Gly222Ser)	SLC8A2 (G222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730020	NM_015063.3(SLC8A2):c.621C>T (p.Phe207=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2650153	NM_015063.3(SLC8A2):c.270C>T (p.Ala90=)	SLC8A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208856	NM_015063.3(SLC8A2):c.206C>T (p.Ala69Val)	SLC8A2 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165644	NM_015063.3(SLC8A2):c.194T>C (p.Leu65Pro)	SLC8A2 (L65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384443	NM_015063.3(SLC8A2):c.188C>T (p.Pro63Leu)	SLC8A2 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276205	NM_015063.3(SLC8A2):c.124G>A (p.Gly42Ser)	SLC8A2 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165636	NM_015063.3(SLC8A2):c.112A>G (p.Thr38Ala)	SLC8A2 (T38A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547123	NM_015063.3(SLC8A2):c.95C>T (p.Pro32Leu)	SLC8A2 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475803	NM_015063.3(SLC8A2):c.91C>T (p.Pro31Ser)	SLC8A2 (P31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	CCDC9, DACT3 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688284	GRCh37/hg19 19q13.32-13.33(chr19:47785567-48178258)x3	BICRA, C5AR1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic

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Items: 56