AQP4[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 152562	GRCh38/hg38 18q11.2(chr18:26827472-27054730)x3	AQP4, AQP4-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 252591	NM_001650.7(AQP4):c.955G>A (p.Val319Ile)	AQP4 (V319I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400295	NM_001650.7(AQP4):c.919G>A (p.Gly307Arg)	AQP4 (G280R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715091	NM_001650.7(AQP4):c.894G>A (p.Val298=)	AQP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2215588	NM_001650.7(AQP4):c.887C>G (p.Pro296Arg)	AQP4 (P269R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485648	NM_001650.7(AQP4):c.873C>A (p.Asp291Glu)	AQP4 (D269E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790431	NM_001650.7(AQP4):c.819A>G (p.Thr273=)	AQP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3128138	NM_001650.7(AQP4):c.812A>G (p.Gln271Arg)	AQP4 (Q271R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222843	NM_001650.7(AQP4):c.778C>T (p.Arg260Cys)	AQP4 (R233C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518532	NM_001650.7(AQP4):c.714C>G (p.Ile238Met)	AQP4 (I216M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309450	NM_001650.7(AQP4):c.694A>G (p.Ile232Val)	AQP4 (I210V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128136	NM_001650.7(AQP4):c.670A>T (p.Met224Leu)	AQP4 (M224L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2688587	NM_001650.7(AQP4):c.646C>T (p.Arg216Ter)	AQP4 (R194* +1 more)	Single nucleotide variant (nonsense +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	GUncertain significance
Select item 2573132	NM_001650.7(AQP4):c.643G>A (p.Ala215Thr)	AQP4 (A193T)	Single nucleotide variant (missense variant +1 more)	Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting	GPathogenic
Select item 3128135	NM_001650.7(AQP4):c.585T>A (p.Phe195Leu)	AQP4 (F173L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709494	NM_001650.7(AQP4):c.578T>C (p.Ile193Thr)	AQP4 (I193T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3128134	NM_001650.7(AQP4):c.566T>C (p.Ile189Thr)	AQP4 (I167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775395	NM_001650.7(AQP4):c.552T>A (p.Asp184Glu)	AQP4 (D162E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346837	NM_001650.7(AQP4):c.406G>T (p.Val136Phe)	AQP4 (V114F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623049	NM_001650.7(AQP4):c.386G>C (p.Gly129Ala)	AQP4 (G129A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055334	NM_001650.7(AQP4):c.383T>C (p.Ile128Thr)	AQP4 (I106T +1 more)	Single nucleotide variant (missense variant)	AQP4-related disorder	GLikely benign
Select item 446492	NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)	AQP4 (S111T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2308253	NM_001650.7(AQP4):c.310A>G (p.Met104Val)	AQP4 (M82V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304185	NM_001650.7(AQP4):c.210G>T (p.Met70Ile)	AQP4 (M48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060164	NM_001650.7(AQP4):c.201G>T (p.Pro67=)	AQP4	Single nucleotide variant (synonymous variant)	AQP4-related disorder	GBenign
Select item 712652	NM_001650.7(AQP4):c.100T>C (p.Phe34Leu)	AQP4 (F12L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3128137	NM_001650.7(AQP4):c.80A>G (p.Lys27Arg)	AQP4 (K27R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3042173	NM_001650.7(AQP4):c.56G>C (p.Arg19Thr)	AQP4 (R19T)	Single nucleotide variant (missense variant +1 more)	AQP4-related disorder	GLikely benign
Select item 2551164	NM_001650.7(AQP4):c.30G>T (p.Trp10Cys)	AQP4, AQP4-AS1 (W10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737793	NM_001650.7(AQP4):c.27G>T (p.Arg9=)	AQP4, AQP4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2685059	GRCh37/hg19 18q11.2(chr18:24091410-24777780)x4	AQP4, CHST9 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1341053	GRCh37/hg19 18q11.2-12.1(chr18:23050629-26026370)x3	AQP4, CDH2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 979688	GRCh37/hg19 18q11.2-12.1(chr18:23586307-25193192)x1	KCTD1, TAF4B +4 more	Copy number loss	not provided	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 66