ClinVar for Gene (Select 147429) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267256	NM_031422.6(CHST9):c.272G>A (p.Arg91Gln)	AQP4-AS1, CHST9 (R91Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3267255	NM_031422.6(CHST9):c.916G>A (p.Gly306Arg)	AQP4-AS1, CHST9 (G306R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3267253	NM_031422.6(CHST9):c.1064A>C (p.Lys355Thr)	AQP4-AS1, CHST9 (K355T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144782	NM_031422.6(CHST9):c.889C>A (p.Pro297Thr)	AQP4-AS1, CHST9 (P297T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144781	NM_031422.6(CHST9):c.492A>T (p.Lys164Asn)	AQP4-AS1, CHST9 (K164N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144780	NM_031422.6(CHST9):c.491A>G (p.Lys164Arg)	AQP4-AS1, CHST9 (K164R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144776	NM_031422.6(CHST9):c.1232G>A (p.Arg411Lys)	AQP4-AS1, CHST9 (R411K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144775	NM_031422.6(CHST9):c.1144C>G (p.Gln382Glu)	AQP4-AS1, CHST9 (Q382E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144774	NM_031422.6(CHST9):c.1076C>T (p.Pro359Leu)	AQP4-AS1, CHST9 (P359L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144773	NM_031422.6(CHST9):c.1060A>T (p.Ser354Cys)	AQP4-AS1, CHST9 (S354C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2648627	NM_031422.6(CHST9):c.609A>G (p.Val203=)	AQP4-AS1, CHST9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2609011	NM_031422.6(CHST9):c.574G>T (p.Val192Leu)	AQP4-AS1, CHST9 (V192L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559761	NM_031422.6(CHST9):c.509A>T (p.Lys170Ile)	AQP4-AS1, CHST9 (K170I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2558508	NM_031422.6(CHST9):c.313A>G (p.Thr105Ala)	AQP4-AS1, CHST9 (T105A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2551751	NM_031422.6(CHST9):c.451T>C (p.Trp151Arg)	AQP4-AS1, CHST9 (W151R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
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 2543258	NM_031422.6(CHST9):c.792A>T (p.Lys264Asn)	AQP4-AS1, CHST9 (K264N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2524813	NM_031422.6(CHST9):c.602A>G (p.His201Arg)	AQP4-AS1, CHST9 (H201R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2370598	NM_031422.6(CHST9):c.447G>A (p.Met149Ile)	AQP4-AS1, CHST9 (M149I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2357114	NM_031422.6(CHST9):c.941G>A (p.Arg314Gln)	AQP4-AS1, CHST9 (R314Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2300618	NM_031422.6(CHST9):c.848T>A (p.Met283Lys)	AQP4-AS1, CHST9 (M283K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2284047	NM_031422.6(CHST9):c.334A>C (p.Ser112Arg)	AQP4-AS1, CHST9 (S112R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2224227	NM_031422.6(CHST9):c.784G>A (p.Asp262Asn)	AQP4-AS1, CHST9 (D262N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2223701	NM_031422.6(CHST9):c.1148T>A (p.Met383Lys)	AQP4-AS1, CHST9 (M383K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 788912	NM_031422.6(CHST9):c.1179C>G (p.Pro393=)	AQP4-AS1, CHST9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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 152562	GRCh38/hg38 18q11.2(chr18:26827472-27054730)x3	AQP4, AQP4-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 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	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 42