AQP11[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 3308947	NM_173039.3(AQP11):c.7C>T (p.Pro3Ser)	AQP11 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359561	NM_173039.3(AQP11):c.22C>G (p.Arg8Gly)	AQP11 (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223289	NM_173039.3(AQP11):c.23G>C (p.Arg8Pro)	AQP11 (R8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517315	NM_173039.3(AQP11):c.63G>T (p.Met21Ile)	AQP11 (M21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268101	NM_173039.3(AQP11):c.121A>G (p.Arg41Gly)	AQP11 (R41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681316	NM_173039.3(AQP11):c.135C>T (p.His45=)	AQP11	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2554050	NM_173039.3(AQP11):c.262G>T (p.Val88Leu)	AQP11 (V88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207369	NM_173039.3(AQP11):c.299C>T (p.Pro100Leu)	AQP11 (P100L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3128107	NM_173039.3(AQP11):c.385C>A (p.Leu129Met)	AQP11 (L129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642190	NM_173039.3(AQP11):c.434A>C (p.Gln145Pro)	AQP11 (Q145P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642191	NM_173039.3(AQP11):c.435G>T (p.Gln145His)	AQP11 (Q145H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2509268	NM_173039.3(AQP11):c.456C>A (p.Ser152Arg)	AQP11 (S152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535513	NM_173039.3(AQP11):c.472C>G (p.Pro158Ala)	AQP11 (P158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299439	NM_173039.3(AQP11):c.472C>T (p.Pro158Ser)	AQP11 (P158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3128108	NM_173039.3(AQP11):c.514G>A (p.Val172Ile)	AQP11 (V172I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2617660	NM_173039.3(AQP11):c.538G>A (p.Ala180Thr)	AQP11 (A180T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338363	NM_173039.3(AQP11):c.556G>A (p.Glu186Lys)	AQP11 (E186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128110	NM_173039.3(AQP11):c.604T>C (p.Phe202Leu)	AQP11 (F202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258790	NM_173039.3(AQP11):c.613T>C (p.Tyr205His)	AQP11 (Y205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308950	NM_173039.3(AQP11):c.737G>C (p.Gly246Ala)	AQP11 (G207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299438	NM_173039.3(AQP11):c.780G>T (p.Trp260Cys)	AQP11 (W221C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808749	GRCh37/hg19 11q14.1(chr11:77211136-78014355)x3	AAMDC, ALG8 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 688758	GRCh37/hg19 11q14.1(chr11:77276494-77430704)x3	AQP11, CLNS1A +1 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563857	GRCh37/hg19 11q13.5-14.1(chr11:76895239-77568340)x3	PAK1, AQP11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 31