ClinVar for Gene (Select 2689) - ClinVar

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Links from Gene

Items: 35

	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 3099704	NM_002059.5(GH2):c.463G>A (p.Glu155Lys)	GH2 (W153* +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099703	NM_002059.5(GH2):c.456+7G>A	GH2 (V155M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099701	NM_002059.5(GH2):c.346G>A (p.Val116Met)	GH2 (V116M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099700	NM_002059.5(GH2):c.260C>T (p.Pro87Leu)	GH2 (P72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099699	NM_002059.5(GH2):c.179C>A (p.Ala60Asp)	GH2 (A60D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621169	NM_002059.5(GH2):c.474C>T (p.Ser158=)	GH2 (A157V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2604870	NM_002059.5(GH2):c.452T>A (p.Met151Lys)	GH2 (M136K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547584	NM_002059.5(GH2):c.456+49A>G	GH2 (R169G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526967	NM_002059.5(GH2):c.512A>T (p.Lys171Met)	GH2 (K156M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512644	NM_002059.5(GH2):c.328C>G (p.Gln110Glu)	GH2 (Q110E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391027	NM_002059.5(GH2):c.51C>G (p.Cys17Trp)	GH2 (C17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386783	NM_002059.5(GH2):c.293A>G (p.Asn98Ser)	GH2 (N83S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383667	NM_002059.5(GH2):c.352C>T (p.Leu118Phe)	GH2 (L103F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367474	NM_002059.5(GH2):c.502T>A (p.Ser168Thr)	GH2 (S153T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365916	NM_002059.5(GH2):c.498T>G (p.Asn166Lys)	GH2 (N151K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2333629	NM_002059.5(GH2):c.350A>G (p.Gln117Arg)	GH2 (Q117R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312606	NM_002059.5(GH2):c.457-66T>C	GH2 (M215T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296414	NM_002059.5(GH2):c.7G>C (p.Ala3Pro)	GH2 (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270801	NM_002059.5(GH2):c.386A>T (p.Tyr129Phe)	GH2 (Y129F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223410	NM_002059.5(GH2):c.360G>C (p.Arg120Ser)	GH2 (R120S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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	LOC112533659, LOC112533660 +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	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35