ClinVar for Gene (Select 9356) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319137	NM_153276.3(SLC22A6):c.1552G>A (p.Asp518Asn)	SLC22A6 (D474N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319135	NM_153276.3(SLC22A6):c.665T>G (p.Val222Gly)	SLC22A6 (V222G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319134	NM_153276.3(SLC22A6):c.375C>A (p.Asp125Glu)	SLC22A6 (D125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319133	NM_153276.3(SLC22A6):c.1183C>T (p.Arg395Trp)	SLC22A6 (R395W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319132	NM_153276.3(SLC22A6):c.485G>A (p.Arg162Gln)	SLC22A6 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319131	NM_153276.3(SLC22A6):c.206G>A (p.Arg69Gln)	SLC22A6 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319130	NM_153276.3(SLC22A6):c.1247C>A (p.Pro416His)	SLC22A6 (P416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319129	NM_153276.3(SLC22A6):c.254A>C (p.Gln85Pro)	SLC22A6 (Q85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163481	NM_153276.3(SLC22A6):c.640A>T (p.Met214Leu)	SLC22A6 (M214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163480	NM_153276.3(SLC22A6):c.239G>A (p.Arg80His)	SLC22A6 (R80H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163479	NM_153276.3(SLC22A6):c.1456C>A (p.Pro486Thr)	SLC22A6 (P486T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163477	NM_153276.3(SLC22A6):c.1392G>T (p.Met464Ile)	SLC22A6 (M464I)	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 2613963	NM_153276.3(SLC22A6):c.1431G>A (p.Met477Ile)	SLC22A6 (M477I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606451	NM_153276.3(SLC22A6):c.785T>C (p.Phe262Ser)	SLC22A6 (F262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602554	NM_153276.3(SLC22A6):c.1099A>C (p.Ile367Leu)	SLC22A6 (I367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559559	NM_153276.3(SLC22A6):c.44G>A (p.Arg15His)	SLC22A6 (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554113	NM_153276.3(SLC22A6):c.1454T>C (p.Met485Thr)	SLC22A6 (M485T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537934	NM_153276.3(SLC22A6):c.620T>A (p.Met207Lys)	SLC22A6 (M207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528424	NM_153276.3(SLC22A6):c.1428C>A (p.Ser476Arg)	SLC22A6 (S476R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486705	NM_153276.3(SLC22A6):c.664G>A (p.Val222Met)	SLC22A6 (V222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481056	NM_153276.3(SLC22A6):c.858G>T (p.Arg286Ser)	SLC22A6 (R286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469299	NM_153276.3(SLC22A6):c.185G>C (p.Gly62Ala)	SLC22A6 (G62A)	Single nucleotide variant (missense variant)	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 2389643	NM_153276.3(SLC22A6):c.893G>A (p.Arg298Gln)	SLC22A6 (R298Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332022	NM_153276.3(SLC22A6):c.449T>C (p.Met150Thr)	SLC22A6 (M150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271249	NM_153276.3(SLC22A6):c.1147C>T (p.Leu383Phe)	SLC22A6 (L383F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268868	NM_153276.3(SLC22A6):c.164C>T (p.Ala55Val)	SLC22A6 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259310	NM_153276.3(SLC22A6):c.569C>T (p.Ala190Val)	SLC22A6 (A190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245749	NM_153276.3(SLC22A6):c.700C>G (p.Gln234Glu)	SLC22A6 (Q234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238612	NM_153276.3(SLC22A6):c.1360C>T (p.Arg454Trp)	SLC22A6 (R454C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229704	NM_153276.3(SLC22A6):c.319G>A (p.Asp107Asn)	SLC22A6 (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225102	NM_153276.3(SLC22A6):c.929G>A (p.Arg310Gln)	SLC22A6 (R310Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217650	NM_153276.3(SLC22A6):c.1438G>A (p.Glu480Lys)	SLC22A6 (E480K)	Single nucleotide variant (missense variant +1 more)	not specified	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 1527643	GRCh37/hg19 11q12.3(chr11:62670903-62820292)	CHRM1, SLC22A6 +1 more	Copy number loss	not specified	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 784190	NM_153276.3(SLC22A6):c.1470C>T (p.Tyr490=)	SLC22A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 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 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48