SLC8A1[gene] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 3320243	NM_021097.5(SLC8A1):c.2083G>A (p.Glu695Lys)	SLC8A1, SLC8A1-AS1 (E687K +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
Select item 974721	NM_021097.5(SLC8A1):c.1808+9112_1808+31346del	LOC120961747, SLC8A1	Deletion (intron variant)	Megacolon	GLikely pathogenic
Select item 2324393	NM_021097.5(SLC8A1):c.1776T>G (p.Cys592Trp)	SLC8A1 (C592W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320240	NM_021097.5(SLC8A1):c.1748G>C (p.Gly583Ala)	SLC8A1 (G583A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750473	NM_021097.5(SLC8A1):c.1713C>T (p.Ile571=)	SLC8A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410607	NM_021097.5(SLC8A1):c.1657A>G (p.Ile553Val)	SLC8A1 (I553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165628	NM_021097.5(SLC8A1):c.1634C>G (p.Pro545Arg)	SLC8A1 (P545R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320242	NM_021097.5(SLC8A1):c.1633C>G (p.Pro545Ala)	SLC8A1 (P545A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309703	NM_021097.5(SLC8A1):c.1567T>C (p.Ser523Pro)	SLC8A1 (S523P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731689	NM_021097.5(SLC8A1):c.1563C>T (p.Leu521=)	SLC8A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3165627	NM_021097.5(SLC8A1):c.1546T>A (p.Ser516Thr)	SLC8A1 (S516T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412151	NM_021097.5(SLC8A1):c.1540C>A (p.His514Asn)	SLC8A1 (H514N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474286	NM_021097.5(SLC8A1):c.1534G>A (p.Ala512Thr)	SLC8A1 (A512T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320237	NM_021097.5(SLC8A1):c.1496A>T (p.Lys499Ile)	SLC8A1 (K499I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400292	NM_021097.5(SLC8A1):c.1481A>G (p.His494Arg)	SLC8A1 (H494R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165626	NM_021097.5(SLC8A1):c.1315A>G (p.Thr439Ala)	SLC8A1 (T439A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165625	NM_021097.5(SLC8A1):c.1241G>A (p.Gly414Glu)	SLC8A1 (G414E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165624	NM_021097.5(SLC8A1):c.1216G>C (p.Val406Leu)	SLC8A1 (V406L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469165	NM_021097.5(SLC8A1):c.1202C>A (p.Thr401Asn)	SLC8A1 (T401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744426	NM_021097.5(SLC8A1):c.1008G>A (p.Lys336=)	SLC8A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3165635	NM_021097.5(SLC8A1):c.978G>T (p.Met326Ile)	SLC8A1 (M326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328595	NM_021097.5(SLC8A1):c.962A>T (p.Glu321Val)	SLC8A1 (E321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263713	NM_021097.5(SLC8A1):c.916G>T (p.Gly306Cys)	SLC8A1 (G306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320236	NM_021097.5(SLC8A1):c.877G>A (p.Gly293Arg)	SLC8A1 (G293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320244	NM_021097.5(SLC8A1):c.866T>C (p.Ile289Thr)	SLC8A1 (I289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260492	NM_021097.5(SLC8A1):c.845G>T (p.Arg282Met)	SLC8A1 (R282M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557436	NM_021097.5(SLC8A1):c.731T>C (p.Ile244Thr)	SLC8A1 (I244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548063	NM_021097.5(SLC8A1):c.634A>G (p.Ile212Val)	SLC8A1 (I212V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320238	NM_021097.5(SLC8A1):c.629G>C (p.Trp210Ser)	SLC8A1 (W210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320239	NM_021097.5(SLC8A1):c.575A>G (p.Asp192Gly)	SLC8A1 (D192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320241	NM_021097.5(SLC8A1):c.563A>C (p.Tyr188Ser)	SLC8A1 (Y188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165634	NM_021097.5(SLC8A1):c.383G>A (p.Arg128Lys)	SLC8A1 (R128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516584	NM_021097.5(SLC8A1):c.283A>G (p.Ile95Val)	SLC8A1 (I95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387523	NM_021097.5(SLC8A1):c.23G>C (p.Ser8Thr)	SLC8A1 (S8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521970	NM_021097.5(SLC8A1):c.7A>G (p.Asn3Asp)	SLC8A1 (N3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747226	NM_021097.5(SLC8A1):c.5A>T (p.Tyr2Phe)	SLC8A1 (Y2F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3148852	GRCh37/hg19 2p22.1(chr2:39234590-40799474)x3	CDKL4, MAP4K3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526463	GRCh37/hg19 2p22.1(chr2:39987132-40349524)	SLC8A1, THUMPD2	Copy number loss	not specified	GUncertain significance
Select item 1526452	GRCh37/hg19 2p22.1-21(chr2:39751028-43437611)	COX7A2L, EML4 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979360	GRCh37/hg19 2p22.1(chr2:40351736-40879491)x3	SLC8A1	Copy number gain	not provided	GUncertain significance
Select item 635956	NC_000002.11:g.39053852_42501893dup	SLC8A1, SOS1 +11 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	HNRNPLL, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

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Items: 87