SLC14A1[gene] - ClinVar

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Items: 86

	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 3060924	NM_015865.7(SLC14A1):c.-22+2268C>T	SLC14A1 (R4W)	Single nucleotide variant (missense variant +1 more)	SLC14A1-related disorder	GBenign
Select item 3059256	NM_015865.7(SLC14A1):c.-22+2360C>A	SLC14A1	Single nucleotide variant (synonymous variant +2 more)	SLC14A1-related disorder	GBenign
Select item 17721	NM_015865.7(SLC14A1):c.-21-131_341+571del	SLC14A1	Deletion (splice acceptor variant +3 more)	Jk-null variant	GPathogenic
Select item 773341	NM_015865.7(SLC14A1):c.28G>A (p.Val10Met)	SLC14A1 (V10M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2514928	NM_015865.7(SLC14A1):c.61C>A (p.Gln21Lys)	SLC14A1 (Q21K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232248	NM_015865.7(SLC14A1):c.62A>G (p.Gln21Arg)	SLC14A1 (Q21R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059300	NM_015865.7(SLC14A1):c.130G>A (p.Glu44Lys)	SLC14A1 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	SLC14A1-related disorder	GBenign
Select item 2304411	NM_015865.7(SLC14A1):c.219C>A (p.Asn73Lys)	SLC14A1 (N129K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773342	NM_015865.7(SLC14A1):c.226G>A (p.Val76Ile)	SLC14A1 (V132I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2636442	NM_015865.7(SLC14A1):c.264_265dup (p.Asn89fs)	SLC14A1 (N145fs +1 more)	Duplication (frameshift variant +2 more)	SLC14A1-related disorder	GLikely pathogenic
Select item 2321954	NM_015865.7(SLC14A1):c.287G>T (p.Gly96Val)	SLC14A1 (G152V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 773343	NM_015865.7(SLC14A1):c.303G>A (p.Val101=)	SLC14A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2484272	NM_015865.7(SLC14A1):c.313C>G (p.Leu105Val)	SLC14A1 (L161V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 17718	NM_015865.7(SLC14A1):c.342-1G>A	SLC14A1	Single nucleotide variant (splice acceptor variant)	SLC14A1-related disorder	GLikely pathogenic
Select item 2530806	NM_015865.7(SLC14A1):c.350T>C (p.Ile117Thr)	SLC14A1 (I12T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2524706	NM_015865.7(SLC14A1):c.352G>A (p.Ala118Thr)	SLC14A1 (A13T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536444	NM_015865.7(SLC14A1):c.399G>A (p.Met133Ile)	SLC14A1 (M133I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769936	NM_015865.7(SLC14A1):c.402T>C (p.Ala134=)	SLC14A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2481228	NM_015865.7(SLC14A1):c.428T>G (p.Phe143Cys)	SLC14A1 (F143C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038047	NM_015865.7(SLC14A1):c.471-10_471-8del	SLC14A1	Deletion (intron variant)	SLC14A1-related disorder	GLikely benign
Select item 3162969	NM_015865.7(SLC14A1):c.501G>C (p.Met167Ile)	SLC14A1 (M167I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676273	NM_015865.7(SLC14A1):c.510del (p.Lys170fs)	SLC14A1 (K170fs +3 more)	Deletion (frameshift variant)	BLOOD GROUP--KIDD SYSTEM	GUncertain significance
Select item 769937	NM_015865.7(SLC14A1):c.511T>C (p.Trp171Arg)	SLC14A1 (W39R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3162970	NM_015865.7(SLC14A1):c.554C>T (p.Ser185Leu)	SLC14A1 (S185L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059083	NM_015865.7(SLC14A1):c.588A>G (p.Pro196=)	SLC14A1	Single nucleotide variant (synonymous variant)	SLC14A1-related disorder	GBenign
Select item 3162971	NM_015865.7(SLC14A1):c.634A>G (p.Ile212Val)	SLC14A1 (I107V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 17719	NM_015865.7(SLC14A1):c.663+1G>T	SLC14A1	Single nucleotide variant (splice donor variant)	Jk-null variant	GPathogenic
Select item 2409282	NM_015865.7(SLC14A1):c.718T>C (p.Trp240Arg)	SLC14A1 (W296R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278119	NM_015865.7(SLC14A1):c.739G>A (p.Gly247Arg)	SLC14A1 (G247R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249273	NM_015865.7(SLC14A1):c.742G>A (p.Ala248Thr)	SLC14A1 (A304T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341977	NM_015865.7(SLC14A1):c.770G>T (p.Cys257Phe)	SLC14A1 (C257F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1308691	NM_015865.7(SLC14A1):c.809C>A (p.Ala270Glu)	SLC14A1 (A138E +3 more)	Single nucleotide variant (missense variant)	altered red cell phenotype	GAffects
Select item 17717	NM_015865.7(SLC14A1):c.838G>A (p.Asp280Asn)	SLC14A1 (D280N +3 more)	Single nucleotide variant (missense variant)	SLC14A1-related disorder	GBenign
Select item 17720	NM_015865.7(SLC14A1):c.871T>C (p.Ser291Pro)	SLC14A1 (S291P +3 more)	Single nucleotide variant (missense variant)	Jk-null variant, finnish type	GPathogenic
Select item 1202625	NM_015865.7(SLC14A1):c.947-1453_*2066del	SLC14A1	Deletion (splice acceptor variant +1 more)	BLOOD GROUP--KIDD SYSTEM	Gnot provided
Select item 2542631	NM_015865.7(SLC14A1):c.1039C>G (p.Leu347Val)	SLC14A1 (L347V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162967	NM_015865.7(SLC14A1):c.1111G>A (p.Glu371Lys)	SLC14A1 (E266K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360447	NM_015865.7(SLC14A1):c.1118A>T (p.Asn373Ile)	SLC14A1 (N429I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525081	NM_015865.7(SLC14A1):c.1121G>A (p.Arg374His)	SLC14A1 (R242H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242804	NC_000018.9:g.(?_42281312)_(45423127_?)del	ARK2C, ARK2N +17 more	Deletion	not provided	GPathogenic
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	AKAIN1, LIPG +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 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
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 86