ClinVar for Gene (Select 387775) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163330	NM_001039752.4(SLC22A10):c.910C>T (p.Arg304Cys)	SLC22A10 (R304C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163329	NM_001039752.4(SLC22A10):c.910C>A (p.Arg304Ser)	SLC22A10 (R304S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163328	NM_001039752.4(SLC22A10):c.767G>A (p.Arg256Gln)	SLC22A10 (R256Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163327	NM_001039752.4(SLC22A10):c.763T>C (p.Phe255Leu)	SLC22A10 (F255L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163326	NM_001039752.4(SLC22A10):c.615G>C (p.Leu205Phe)	SLC22A10 (L205F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163325	NM_001039752.4(SLC22A10):c.348T>G (p.Cys116Trp)	SLC22A10 (C116W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163324	NM_001039752.4(SLC22A10):c.341A>G (p.Glu114Gly)	SLC22A10 (E114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163323	NM_001039752.4(SLC22A10):c.340G>A (p.Glu114Lys)	SLC22A10 (E114K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163322	NM_001039752.4(SLC22A10):c.277C>A (p.His93Asn)	SLC22A10 (H93N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163321	NM_001039752.4(SLC22A10):c.145T>A (p.Cys49Ser)	SLC22A10 (C49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641899	NM_001039752.4(SLC22A10):c.795G>A (p.Ala265=)	SLC22A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2599151	NM_001039752.4(SLC22A10):c.1298T>A (p.Leu433Gln)	SLC22A10 (L433Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589536	NM_001039752.4(SLC22A10):c.1024C>T (p.Arg342Cys)	SLC22A10 (R342C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589533	NM_001039752.4(SLC22A10):c.1020G>C (p.Leu340Phe)	SLC22A10 (L340F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568713	NM_001039752.4(SLC22A10):c.515G>A (p.Arg172Gln)	SLC22A10 (R172Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507576	NM_001039752.4(SLC22A10):c.637A>T (p.Ile213Phe)	SLC22A10 (I213F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494517	NM_001039752.4(SLC22A10):c.595T>G (p.Tyr199Asp)	SLC22A10 (Y199D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490719	NM_001039752.4(SLC22A10):c.488G>A (p.Gly163Asp)	SLC22A10 (G163D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472606	NM_001039752.4(SLC22A10):c.1605A>T (p.Lys535Asn)	SLC22A10 (K535N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470036	NM_001039752.4(SLC22A10):c.505A>T (p.Arg169Trp)	SLC22A10 (R169W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2390049	NM_001039752.4(SLC22A10):c.568G>A (p.Ala190Thr)	SLC22A10 (A190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383446	NM_001039752.4(SLC22A10):c.29T>C (p.Val10Ala)	SLC22A10 (V10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369848	NM_001039752.4(SLC22A10):c.1025G>A (p.Arg342His)	SLC22A10 (R342H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342794	NM_001039752.4(SLC22A10):c.1559A>G (p.Asn520Ser)	SLC22A10 (N520S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336031	NM_001039752.4(SLC22A10):c.1568T>C (p.Leu523Ser)	SLC22A10 (L523S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310145	NM_001039752.4(SLC22A10):c.223A>G (p.Ile75Val)	SLC22A10 (I75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304723	NM_001039752.4(SLC22A10):c.238G>C (p.Asp80His)	SLC22A10 (D80H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289223	NM_001039752.4(SLC22A10):c.611T>C (p.Phe204Ser)	SLC22A10 (F204S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262876	NM_001039752.4(SLC22A10):c.794C>T (p.Ala265Val)	SLC22A10 (A265V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2248090	NM_001039752.4(SLC22A10):c.656T>C (p.Leu219Ser)	SLC22A10 (L219S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808080	GRCh37/hg19 11q12.3(chr11:62838127-63118199)x1	SLC22A10, SLC22A24 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340675	GRCh37/hg19 11q12.3(chr11:62782711-63122730)x3	SLC22A10, SLC22A24 +2 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980955	GRCh37/hg19 11q12.3(chr11:62714816-63383226)x3	LGALS12, SLC22A9 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563842	GRCh37/hg19 11q12.3(chr11:62782710-63104063)x3	SLC22A24, SLC22A10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 43