LOC126862654[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 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 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 2467755	NM_173628.4(DNAH17):c.4718C>T (p.Thr1573Met)	DNAH17, LOC126862654 (T1573M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083742	NM_173628.4(DNAH17):c.4687T>A (p.Cys1563Ser)	DNAH17, LOC126862654 (C1563S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790188	NM_173628.4(DNAH17):c.4677C>A (p.Ser1559Arg)	DNAH17, LOC126862654 (S1559R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2356045	NM_173628.4(DNAH17):c.4661A>C (p.Glu1554Ala)	DNAH17, LOC126862654 (E1554A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622721	NM_173628.4(DNAH17):c.4642G>A (p.Gly1548Ser)	DNAH17, LOC126862654 (G1548S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1269914	NM_173628.4(DNAH17):c.4639C>A (p.Pro1547Thr)	DNAH17, LOC126862654 (P1547T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2319919	NM_173628.4(DNAH17):c.4617C>A (p.Asn1539Lys)	DNAH17, LOC126862654 (N1539K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402688	NM_173628.4(DNAH17):c.4584+13C>T	DNAH17, LOC126862654	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 402689	NM_173628.4(DNAH17):c.4564G>T (p.Asp1522Tyr)	DNAH17, LOC126862654 (D1522Y)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2351602	NM_173628.4(DNAH17):c.4556G>A (p.Arg1519His)	DNAH17, LOC126862654 (R1519H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470882	NM_173628.4(DNAH17):c.4541C>T (p.Pro1514Leu)	DNAH17, LOC126862654 (P1514L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038260	NM_173628.4(DNAH17):c.4539C>G (p.Leu1513=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GBenign
Select item 2608180	NM_173628.4(DNAH17):c.4532C>T (p.Thr1511Ile)	DNAH17, LOC126862654 (T1511I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402690	NM_173628.4(DNAH17):c.4531A>G (p.Thr1511Ala)	DNAH17, LOC126862654 (T1511A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2240057	NM_173628.4(DNAH17):c.4519G>A (p.Glu1507Lys)	DNAH17, LOC126862654 (E1507K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026197	NM_173628.4(DNAH17):c.4518C>T (p.Ser1506=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2411079	NM_173628.4(DNAH17):c.4513G>A (p.Gly1505Ser)	DNAH17, LOC126862654 (G1505S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270780	NM_173628.4(DNAH17):c.4513G>T (p.Gly1505Cys)	DNAH17, LOC126862654 (G1505C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402691	NM_173628.4(DNAH17):c.4500G>A (p.Glu1500=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2519019	NM_173628.4(DNAH17):c.4494C>G (p.His1498Gln)	DNAH17, LOC126862654 (H1498Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272756	NM_173628.4(DNAH17):c.4481G>A (p.Arg1494Gln)	DNAH17, LOC126862654 (R1494Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1272668	NM_173628.4(DNAH17):c.4446G>T (p.Ala1482=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3083741	NM_173628.4(DNAH17):c.4442C>T (p.Thr1481Met)	DNAH17, LOC126862654 (T1481M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256491	NM_173628.4(DNAH17):c.4402T>C (p.Phe1468Leu)	DNAH17, LOC126862654 (F1468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210910	NM_173628.4(DNAH17):c.4390T>C (p.Tyr1464His)	DNAH17, LOC126862654 (Y1464H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269296	NM_173628.4(DNAH17):c.4343C>T (p.Thr1448Met)	DNAH17, LOC126862654 (T1448M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2274687	NM_173628.4(DNAH17):c.4319A>G (p.Lys1440Arg)	DNAH17, LOC126862654 (K1440R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051638	NM_173628.4(DNAH17):c.4296G>A (p.Pro1432=)	DNAH17, LOC126862654	Single nucleotide variant (synonymous variant)	DNAH17-related disorder	GLikely benign
Select item 2488666	NM_173628.4(DNAH17):c.4295C>T (p.Pro1432Leu)	DNAH17, LOC126862654 (P1432L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559656	NM_173628.4(DNAH17):c.4293C>A (p.His1431Gln)	DNAH17, LOC126862654 (H1431Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384311	NM_173628.4(DNAH17):c.4289C>T (p.Pro1430Leu)	DNAH17, LOC126862654 (P1430L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3272741	NM_173628.4(DNAH17):c.4284C>A (p.His1428Gln)	DNAH17, LOC126862654 (H1428Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3083740	NM_173628.4(DNAH17):c.4265G>A (p.Ser1422Asn)	DNAH17, LOC126862654 (S1422N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239796	NM_173628.4(DNAH17):c.4237-79A>G	DNAH17, LOC126862654	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 39