SLC14A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 147605	GRCh38/hg38 18q12.3-21.1(chr18:42335174-46726460)x1	ARK2C, ARK2N +74 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 152556	GRCh38/hg38 18q12.3-21.1(chr18:43833480-46144138)x1	LINC01601, LOC110121352 +55 more	Copy number loss	See cases	GPathogenic
Select item 147502	GRCh38/hg38 18q12.3(chr18:44401938-45869924)x1	EPG5, LINC01478 +37 more	Copy number loss	See cases	GUncertain significance
Select item 58781	GRCh38/hg38 18q12.3-21.1(chr18:45541699-46697357)x3	ARK2C, ARK2N +35 more	Copy number gain	See cases	GPathogenic
Select item 2532629	NM_007163.4(SLC14A2):c.64G>A (p.Glu22Lys)	SLC14A2 (E22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368964	NM_007163.4(SLC14A2):c.87C>A (p.Ser29Arg)	SLC14A2 (S29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162987	NM_007163.4(SLC14A2):c.97A>G (p.Thr33Ala)	SLC14A2 (T33A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598930	NM_007163.4(SLC14A2):c.104C>T (p.Pro35Leu)	SLC14A2 (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205359	NM_007163.4(SLC14A2):c.157C>T (p.Arg53Trp)	SLC14A2 (R53W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162973	NM_007163.4(SLC14A2):c.158G>A (p.Arg53Gln)	SLC14A2 (R53Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162974	NM_007163.4(SLC14A2):c.166A>G (p.Asn56Asp)	SLC14A2 (N56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648696	NM_007163.4(SLC14A2):c.300C>T (p.Gly100=)	SLC14A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2282050	NM_007163.4(SLC14A2):c.344C>A (p.Ala115Asp)	SLC14A2 (A115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597715	NM_007163.4(SLC14A2):c.401A>G (p.Asn134Ser)	SLC14A2 (N134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493340	NM_007163.4(SLC14A2):c.403C>A (p.Pro135Thr)	SLC14A2 (P135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483052	NM_007163.4(SLC14A2):c.415C>G (p.Leu139Val)	SLC14A2 (L139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162982	NM_007163.4(SLC14A2):c.470G>T (p.Gly157Val)	SLC14A2 (G157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162983	NM_007163.4(SLC14A2):c.485T>G (p.Val162Gly)	SLC14A2 (V162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250345	NM_007163.4(SLC14A2):c.488C>T (p.Ser163Leu)	SLC14A2 (S163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162984	NM_007163.4(SLC14A2):c.556G>A (p.Gly186Arg)	SLC14A2 (G186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162985	NM_007163.4(SLC14A2):c.643A>C (p.Met215Leu)	SLC14A2 (M215L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162986	NM_007163.4(SLC14A2):c.788T>C (p.Val263Ala)	SLC14A2 (V263A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461485	NM_007163.4(SLC14A2):c.1238C>T (p.Thr413Met)	SLC14A2 (T413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341136	NM_007163.4(SLC14A2):c.1341G>T (p.Lys447Asn)	SLC14A2 (K447N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241655	NM_007163.4(SLC14A2):c.1343C>A (p.Ala448Asp)	SLC14A2 (A448D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553525	NM_007163.4(SLC14A2):c.1345C>A (p.Pro449Thr)	SLC14A2 (P449T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784378	NM_007163.4(SLC14A2):c.1351G>A (p.Gly451Arg)	SLC14A2 (G451R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2341229	NM_007163.4(SLC14A2):c.1403C>T (p.Ser468Leu)	SLC14A2 (S468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162972	NM_007163.4(SLC14A2):c.1454C>G (p.Ser485Cys)	SLC14A2 (S485C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228354	NM_007163.4(SLC14A2):c.1475T>C (p.Val492Ala)	SLC14A2 (V492A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472220	NM_007163.4(SLC14A2):c.1543A>G (p.Thr515Ala)	SLC14A2 (T515A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376489	NM_007163.4(SLC14A2):c.1627C>T (p.Arg543Trp)	SLC14A2 (R543W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334869	NM_007163.4(SLC14A2):c.1628G>C (p.Arg543Pro)	SLC14A2 (R543P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405276	NM_007163.4(SLC14A2):c.1700G>T (p.Cys567Phe)	SLC14A2 (C567F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404608	NM_007163.4(SLC14A2):c.1868T>G (p.Ile623Ser)	SLC14A2 (I623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277488	NM_007163.4(SLC14A2):c.1876A>G (p.Thr626Ala)	SLC14A2 (T626A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218007	NM_007163.4(SLC14A2):c.1930C>T (p.His644Tyr)	SLC14A2 (H644Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488547	NM_007163.4(SLC14A2):c.1936T>C (p.Tyr646His)	SLC14A2 (Y646H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361370	NM_007163.4(SLC14A2):c.1940A>G (p.Asn647Ser)	SLC14A2 (N647S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297227	NM_007163.4(SLC14A2):c.1984G>A (p.Gly662Ser)	SLC14A2 (G662S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343024	NM_007163.4(SLC14A2):c.2012C>T (p.Pro671Leu)	SLC14A2 (P671L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162976	NM_007163.4(SLC14A2):c.2014G>A (p.Val672Ile)	SLC14A2 (V672I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311432	NM_007163.4(SLC14A2):c.2041A>G (p.Ile681Val)	SLC14A2 (I681V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386075	NM_007163.4(SLC14A2):c.2054C>T (p.Ala685Val)	SLC14A2 (A685V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316367	NM_007163.4(SLC14A2):c.2057T>C (p.Leu686Pro)	SLC14A2 (L686P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162977	NM_007163.4(SLC14A2):c.2151C>A (p.Asn717Lys)	SLC14A2 (N717K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162978	NM_007163.4(SLC14A2):c.2152C>A (p.Leu718Ile)	SLC14A2 (L718I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303535	NM_007163.4(SLC14A2):c.2165C>A (p.Thr722Lys)	SLC14A2 (T722K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391525	NM_007163.4(SLC14A2):c.2188G>A (p.Ala730Thr)	SLC14A2 (A730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301626	NM_007163.4(SLC14A2):c.2255T>A (p.Ile752Asn)	SLC14A2 (I752N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291081	NM_007163.4(SLC14A2):c.2374G>C (p.Ala792Pro)	SLC14A2 (A792P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162979	NM_007163.4(SLC14A2):c.2378C>T (p.Ala793Val)	SLC14A2 (A793V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162980	NM_007163.4(SLC14A2):c.2464A>G (p.Met822Val)	SLC14A2 (M822V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409039	NM_007163.4(SLC14A2):c.2465T>C (p.Met822Thr)	SLC14A2 (M822T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472320	NM_007163.4(SLC14A2):c.2551A>G (p.Met851Val)	SLC14A2 (M851V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162981	NM_007163.4(SLC14A2):c.2594G>A (p.Cys865Tyr)	SLC14A2 (C865Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533307	NM_007163.4(SLC14A2):c.2629A>G (p.Asn877Asp)	SLC14A2 (N877D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462134	NM_007163.4(SLC14A2):c.2634C>A (p.Asn878Lys)	SLC14A2 (N878K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063562	GRCh37/hg19 18q12.2-21.1(chr18:36823620-44030870)x1	ARK2C, ARK2N +11 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 2684876	GRCh37/hg19 18q12.3(chr18:42755010-43472426)x3	EPG5, SIGLEC15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2426180	NC_000018.9:g.(?_42281312)_(44236996_?)del	ARK2C, ARK2N +9 more	Deletion	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1412018	NC_000018.9:g.(?_42281312)_(45423127_?)dup	ARK2C, ARK2N +17 more	Duplication	Vici syndrome +1 more	GUncertain significance
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 816011	GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1	SLC14A2, EPG5 +16 more	Copy number loss	not provided	GPathogenic
Select item 816010	GRCh37/hg19 18q12.3-21.1(chr18:39800804-44365152)x1	ST8SIA5, RNF165 +12 more	Copy number loss	not provided	GPathogenic
Select item 687030	GRCh37/hg19 18q12.3(chr18:42077361-43132127)x3	SETBP1, SLC14A2	Copy number gain	not provided	GUncertain significance
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic

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