CHST1[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 2330573	NM_003654.6(CHST1):c.1222C>G (p.Arg408Gly)	CHST1 (R408G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263890	NM_003654.6(CHST1):c.1162G>A (p.Ala388Thr)	CHST1 (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267201	NM_003654.6(CHST1):c.1087C>A (p.Arg363Ser)	CHST1 (R363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597896	NM_003654.6(CHST1):c.1048G>C (p.Val350Leu)	CHST1 (V350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267202	NM_003654.6(CHST1):c.697G>T (p.Val233Phe)	CHST1 (V233F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144694	NM_003654.6(CHST1):c.668C>G (p.Pro223Arg)	CHST1 (P223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144693	NM_003654.6(CHST1):c.650G>A (p.Arg217His)	CHST1 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216676	NM_003654.6(CHST1):c.628G>A (p.Val210Met)	CHST1 (V210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260081	NM_003654.6(CHST1):c.592C>A (p.Arg198Ser)	CHST1 (R198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517273	NM_003654.6(CHST1):c.419A>G (p.Lys140Arg)	CHST1 (K140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267200	NM_003654.6(CHST1):c.304C>T (p.Pro102Ser)	CHST1 (P102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267204	NM_003654.6(CHST1):c.209G>T (p.Arg70Leu)	CHST1 (R70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551258	NM_003654.6(CHST1):c.182C>T (p.Thr61Ile)	CHST1 (T61I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460373	NM_003654.6(CHST1):c.176G>A (p.Arg59His)	CHST1 (R59H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2224411	NM_003654.6(CHST1):c.160G>A (p.Ala54Thr)	CHST1 (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267199	NM_003654.6(CHST1):c.152C>T (p.Pro51Leu)	CHST1 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267203	NM_003654.6(CHST1):c.128C>T (p.Ala43Val)	CHST1 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340394	GRCh37/hg19 11p11.2(chr11:45675636-45850138)x3	CHST1, SLC35C1	Copy number gain	not provided	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, CD82 +13 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