CHST9[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +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	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	LOC130062386, LOC130062387 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	LINC01900, LINC01908 +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	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2344688	NM_031422.6(CHST9):c.190G>A (p.Val64Ile)	CHST9 (V64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144777	NM_031422.6(CHST9):c.184C>T (p.Arg62Trp)	CHST9 (R62W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146371	GRCh38/hg38 18q11.2(chr18:27124495-27303933)x1	CHST9, LINC01908 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2395394	NM_031422.6(CHST9):c.50T>G (p.Val17Gly)	CHST9 (V17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600529	NM_031422.6(CHST9):c.25A>G (p.Asn9Asp)	CHST9 (N9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455659	NM_031422.6(CHST9):c.22A>G (p.Met8Val)	CHST9 (M8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144779	NM_031422.6(CHST9):c.19G>T (p.Val7Phe)	CHST9 (V7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2685617	GRCh37/hg19 18q11.2(chr18:24669282-24727672)x1	CHST9	Copy number loss	not provided	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 815992	GRCh37/hg19 18q11.2(chr18:24515053-24786119)x3	CHST9	Copy number gain	not provided	GUncertain significance
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: 67