Related gene-specific medical variations for Gene (Select 83539) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685617	GRCh37/hg19 18q11.2(chr18:24669282-24727672)x1	CHST9	Copy number loss	not provided	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 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 815992	GRCh37/hg19 18q11.2(chr18:24515053-24786119)x3	CHST9	Copy number gain	not provided	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

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Links from Gene

Items: 23