AQP9[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 2387820	NM_020980.5(AQP9):c.77C>A (p.Thr26Asn)	AQP9 (T26N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351357	NM_020980.5(AQP9):c.158G>A (p.Arg53His)	AQP9 (R53H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3128155	NM_020980.5(AQP9):c.214A>G (p.Ile72Val)	AQP9 (I7V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254837	NM_020980.5(AQP9):c.229G>T (p.Gly77Cys)	AQP9 (G77C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128156	NM_020980.5(AQP9):c.296G>T (p.Trp99Leu)	AQP9 (W34L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645380	NM_020980.5(AQP9):c.357C>T (p.Thr119=)	AQP9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128157	NM_020980.5(AQP9):c.358G>A (p.Val120Ile)	AQP9 (V120I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299865	NM_020980.5(AQP9):c.415G>A (p.Val139Met)	AQP9 (V74M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218555	NM_020980.5(AQP9):c.455C>G (p.Pro152Arg)	AQP9 (P87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285849	NM_020980.5(AQP9):c.457G>A (p.Ala153Thr)	AQP9 (A153T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390980	NM_020980.5(AQP9):c.476C>T (p.Ala159Val)	AQP9 (A159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128158	NM_020980.5(AQP9):c.555G>T (p.Leu185Phe)	AQP9 (L185F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596860	NM_020980.5(AQP9):c.587T>G (p.Ile196Ser)	AQP9 (I131S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483191	NM_020980.5(AQP9):c.587T>C (p.Ile196Thr)	AQP9 (I196T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375713	NM_020980.5(AQP9):c.604G>A (p.Val202Ile)	AQP9 (V137I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619836	NM_020980.5(AQP9):c.626T>G (p.Leu209Arg)	AQP9 (L209R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308174	NM_020980.5(AQP9):c.764C>T (p.Ala255Val)	AQP9 (A255V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2532042	NM_020980.5(AQP9):c.829T>C (p.Phe277Leu)	AQP9 (F212L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3128159	NM_020980.5(AQP9):c.871C>T (p.Leu291Phe)	AQP9 (L291F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980522	GRCh37/hg19 15q21.3(chr15:58461372-58897874)x3	ADAM10, AQP9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980520	GRCh37/hg19 15q21.3(chr15:57414627-58960510)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 564209	GRCh37/hg19 15q21.3(chr15:57608623-59029582)x3	ADAM10, ALDH1A2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 442376	GRCh37/hg19 15q21.3(chr15:57518653-58974175)x3	ADAM10, ALDH1A2 +6 more	Copy number gain	See cases	GLikely pathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic

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Items: 38