SLC9A2[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 3165686	NM_003048.6(SLC9A2):c.82C>T (p.Pro28Ser)	SLC9A2 (P28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165677	NM_003048.6(SLC9A2):c.115G>A (p.Ala39Thr)	SLC9A2 (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165680	NM_003048.6(SLC9A2):c.163G>C (p.Val55Leu)	SLC9A2 (V55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320264	NM_003048.6(SLC9A2):c.176G>A (p.Gly59Glu)	SLC9A2 (G59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120035	NM_003048.6(SLC9A2):c.289+15331G>A	SLC9A2	Single nucleotide variant (intron variant)	Ascending aortic dissection	Gassociation
Select item 2310458	NM_003048.6(SLC9A2):c.347T>C (p.Met116Thr)	SLC9A2 (M116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388616	NM_003048.6(SLC9A2):c.460G>A (p.Gly154Ser)	SLC9A2 (G154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259843	NM_003048.6(SLC9A2):c.601G>A (p.Asp201Asn)	SLC9A2 (D201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320260	NM_003048.6(SLC9A2):c.811G>A (p.Val271Met)	LOC126806291, SLC9A2 (V271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531980	NM_003048.6(SLC9A2):c.826G>A (p.Ala276Thr)	LOC126806291, SLC9A2 (A276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320263	NM_003048.6(SLC9A2):c.907A>G (p.Thr303Ala)	LOC126806291, SLC9A2 (T303A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165687	NM_003048.6(SLC9A2):c.967A>G (p.Ile323Val)	LOC126806291, SLC9A2 (I323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165688	NM_003048.6(SLC9A2):c.971C>T (p.Thr324Ile)	LOC126806291, SLC9A2 (T324I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165678	NM_003048.6(SLC9A2):c.1180G>A (p.Val394Ile)	SLC9A2 (V394I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604120	NM_003048.6(SLC9A2):c.1190C>A (p.Thr397Asn)	SLC9A2 (T397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320262	NM_003048.6(SLC9A2):c.1367G>A (p.Arg456Gln)	SLC9A2 (R456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165679	NM_003048.6(SLC9A2):c.1471T>C (p.Ser491Pro)	SLC9A2 (S491P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254464	NM_003048.6(SLC9A2):c.1489G>A (p.Ala497Thr)	SLC9A2 (A497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368345	NM_003048.6(SLC9A2):c.1756C>T (p.Arg586Cys)	SLC9A2 (R586C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165681	NM_003048.6(SLC9A2):c.1939A>G (p.Ser647Gly)	SLC9A2 (S647G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217757	NM_003048.6(SLC9A2):c.1962G>T (p.Leu654Phe)	SLC9A2 (L654F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165683	NM_003048.6(SLC9A2):c.1967G>T (p.Arg656Leu)	SLC9A2 (R656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212061	NM_003048.6(SLC9A2):c.1967G>A (p.Arg656Gln)	SLC9A2 (R656Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165684	NM_003048.6(SLC9A2):c.2086T>C (p.Ser696Pro)	SLC9A2 (S696P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320269	NM_003048.6(SLC9A2):c.2138G>T (p.Arg713Leu)	SLC9A2 (R713L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218345	NM_003048.6(SLC9A2):c.2173del (p.Gln725fs)	SLC9A2 (Q725fs)	Deletion (frameshift variant)	Mediastinal germ cell tumor +1 more	GUncertain significance
Select item 2536183	NM_003048.6(SLC9A2):c.2191T>C (p.Trp731Arg)	SLC9A2 (W731R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359156	NM_003048.6(SLC9A2):c.2243C>A (p.Pro748Gln)	SLC9A2 (P748Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320265	NM_003048.6(SLC9A2):c.2282G>C (p.Gly761Ala)	SLC9A2 (G761A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165685	NM_003048.6(SLC9A2):c.2300T>G (p.Leu767Arg)	SLC9A2 (L767R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320261	NM_003048.6(SLC9A2):c.2321G>A (p.Gly774Asp)	SLC9A2 (G774D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320268	NM_003048.6(SLC9A2):c.2341T>G (p.Leu781Val)	SLC9A2 (L781V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512408	NM_003048.6(SLC9A2):c.2408G>A (p.Arg803Gln)	SLC9A2 (R803Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329814	NM_003048.6(SLC9A2):c.2428G>C (p.Glu810Gln)	SLC9A2 (E810Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1809233	GRCh37/hg19 2q11.2-12.1(chr2:102443532-105019078)x1	IL18R1, IL18RAP +9 more	Copy number loss	not provided	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 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687771	GRCh37/hg19 2q11.2-12.1(chr2:102248064-103361749)x3	IL18R1, IL18RAP +8 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic

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Items: 55