ClinVar for Gene (Select 1442) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148898	GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3	ACE, APPBP2 +43 more	Copy number gain	See cases	GUncertain significance
Select item 3078033	NM_001317.6(CSH1):c.610C>A (p.Arg204Ser)	CSH1 (R204S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078032	NM_001317.6(CSH1):c.544C>G (p.Leu182Val)	CSH1 (L182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078030	NM_001317.6(CSH1):c.536A>G (p.His179Arg)	CSH1 (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078029	NM_001317.6(CSH1):c.526T>C (p.Ser176Pro)	CSH1 (S176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078028	NM_001317.6(CSH1):c.476G>A (p.Arg159His)	CSH1 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078027	NM_001317.6(CSH1):c.370G>A (p.Ala124Thr)	CSH1 (A124T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078026	NM_001317.6(CSH1):c.366G>C (p.Met122Ile)	CSH1 (M122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078025	NM_001317.6(CSH1):c.365T>C (p.Met122Thr)	CSH1 (M122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078024	NM_001317.6(CSH1):c.334T>C (p.Trp112Arg)	CSH1 (W112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648083	NM_001317.6(CSH1):c.117T>C (p.Ala39=)	CSH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553343	NM_001317.6(CSH1):c.538G>C (p.Asp180His)	CSH1 (D180H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405885	NM_001317.6(CSH1):c.338T>G (p.Leu113Arg)	CSH1 (L113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363126	NM_001317.6(CSH1):c.515T>C (p.Phe172Ser)	CSH1 (F172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360764	NM_001317.6(CSH1):c.478C>T (p.Arg160Trp)	CSH1 (R160W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344801	NM_001317.6(CSH1):c.114C>G (p.His38Gln)	CSH1 (H38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344800	NM_001317.6(CSH1):c.112C>G (p.His38Asp)	CSH1 (H38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344799	NM_001317.6(CSH1):c.111C>A (p.Asp37Glu)	CSH1 (D37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250920	NM_001317.6(CSH1):c.311T>C (p.Ile104Thr)	CSH1 (I104T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239721	NM_001317.6(CSH1):c.432G>C (p.Glu144Asp)	CSH1 (E144D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226530	NM_001317.6(CSH1):c.403G>A (p.Asp135Asn)	CSH1 (D135N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220219	NM_001317.6(CSH1):c.491T>C (p.Ile164Thr)	CSH1 (I164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 395240	GRCh37/hg19 17q23.3(chr17:61940902-61986943)x1	CSH1, CSH2 +1 more	Copy number loss	See cases	GLikely benign
Select item 394980	GRCh37/hg19 17q23.3(chr17:61940902-61973673)x1	CSH1, CSH2 +1 more	Copy number loss	See cases	GLikely benign
Select item 394722	GRCh37/hg19 17q23.3(chr17:61937184-61973673)x1	CSH1, CSH2 +1 more	Copy number loss	See cases	GLikely benign
Select item 393906	GRCh37/hg19 17q23.3(chr17:61949400-61973673)x3	CSH1, CSH2 +1 more	Copy number gain	See cases	GLikely benign
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36