ClinVar for Gene (Select 9121) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318946	NM_004695.4(SLC16A5):c.911G>A (p.Arg304His)	SLC16A5 (R304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163116	NM_004695.4(SLC16A5):c.853A>G (p.Ile285Val)	SLC16A5 (I285V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163115	NM_004695.4(SLC16A5):c.731G>A (p.Gly244Asp)	SLC16A5 (G244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163114	NM_004695.4(SLC16A5):c.674G>A (p.Arg225His)	SLC16A5 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163112	NM_004695.4(SLC16A5):c.424G>A (p.Ala142Thr)	SLC16A5 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163111	NM_004695.4(SLC16A5):c.1379G>A (p.Arg460His)	SLC16A5 (R460H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163110	NM_004695.4(SLC16A5):c.1333G>A (p.Gly445Ser)	SLC16A5 (G445S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163108	NM_004695.4(SLC16A5):c.1115T>A (p.Leu372Gln)	SLC16A5 (L372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2620100	NM_004695.4(SLC16A5):c.1184G>T (p.Ser395Ile)	SLC16A5 (S395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618368	NM_004695.4(SLC16A5):c.1321G>C (p.Glu441Gln)	SLC16A5 (E441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614983	NM_004695.4(SLC16A5):c.724A>T (p.Ile242Leu)	SLC16A5 (I242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604429	NM_004695.4(SLC16A5):c.1120G>A (p.Gly374Ser)	SLC16A5 (G374S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592153	NM_004695.4(SLC16A5):c.1123C>G (p.Leu375Val)	SLC16A5 (L375V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2542556	NM_004695.4(SLC16A5):c.1024A>C (p.Met342Leu)	SLC16A5 (M342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542307	NM_004695.4(SLC16A5):c.583A>G (p.Ser195Gly)	SLC16A5 (S195G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542306	NM_004695.4(SLC16A5):c.1160T>G (p.Leu387Arg)	SLC16A5 (L387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519688	NM_004695.4(SLC16A5):c.203C>T (p.Pro68Leu)	SLC16A5 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 2493038	NM_004695.4(SLC16A5):c.554G>T (p.Cys185Phe)	SLC16A5 (C185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493037	NM_004695.4(SLC16A5):c.1421G>A (p.Cys474Tyr)	SLC16A5 (C474Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478605	NM_004695.4(SLC16A5):c.425C>T (p.Ala142Val)	SLC16A5 (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403904	NM_004695.4(SLC16A5):c.320A>G (p.Tyr107Cys)	SLC16A5 (Y107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401019	NM_004695.4(SLC16A5):c.571C>T (p.Pro191Ser)	SLC16A5 (P191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391401	NM_004695.4(SLC16A5):c.764C>T (p.Pro255Leu)	SLC16A5 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377048	NM_004695.4(SLC16A5):c.1066A>G (p.Ile356Val)	SLC16A5 (I356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367445	NM_004695.4(SLC16A5):c.1288G>A (p.Ala430Thr)	SLC16A5 (A430T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363479	NM_004695.4(SLC16A5):c.910C>T (p.Arg304Cys)	SLC16A5 (R304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362295	NM_004695.4(SLC16A5):c.247G>C (p.Val83Leu)	SLC16A5 (V83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361725	NM_004695.4(SLC16A5):c.1327A>G (p.Lys443Glu)	SLC16A5 (K443E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345857	NM_004695.4(SLC16A5):c.893C>T (p.Pro298Leu)	SLC16A5 (P298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328384	NM_004695.4(SLC16A5):c.1436G>T (p.Arg479Met)	SLC16A5 (R479M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327315	NM_004695.4(SLC16A5):c.1323A>T (p.Glu441Asp)	SLC16A5 (E441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316918	NM_004695.4(SLC16A5):c.1388G>A (p.Arg463His)	SLC16A5 (R463H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302404	NM_004695.4(SLC16A5):c.1429T>G (p.Ser477Ala)	SLC16A5 (S477A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264108	NM_004695.4(SLC16A5):c.310A>C (p.Ser104Arg)	SLC16A5 (S104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234429	NM_004695.4(SLC16A5):c.516C>G (p.Phe172Leu)	SLC16A5 (F172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222403	NM_004695.4(SLC16A5):c.406C>T (p.Arg136Trp)	SLC16A5 (R136W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219225	NM_004695.4(SLC16A5):c.1100G>C (p.Gly367Ala)	SLC16A5 (G367A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209711	NM_004695.4(SLC16A5):c.301C>T (p.His101Tyr)	SLC16A5 (H101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564472	GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3	ARMC7, GGA3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 57