CHST8[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 1225578	NM_001127895.2(CHST8):c.-86-36C>T	CHST8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2483193	NM_001127895.2(CHST8):c.11G>A (p.Arg4Gln)	CHST8 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774526	NM_001127895.2(CHST8):c.27G>A (p.Arg9=)	CHST8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144765	NM_001127895.2(CHST8):c.37A>G (p.Met13Val)	CHST8 (M13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374204	NM_001127895.2(CHST8):c.38T>C (p.Met13Thr)	CHST8 (M13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154644	GRCh38/hg38 19q13.11(chr19:33738413-33998042)x1	CHST8, KCTD15 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1261859	NM_001127895.2(CHST8):c.168+64G>A	CHST8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3144764	NM_001127895.2(CHST8):c.172C>A (p.Leu58Ile)	CHST8 (L58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483154	NM_001127895.2(CHST8):c.191A>G (p.Gln64Arg)	CHST8 (Q64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035529	NM_001127895.2(CHST8):c.229C>A (p.Arg77=)	CHST8	Single nucleotide variant (synonymous variant)	CHST8-related disorder	GLikely benign
Select item 183645	NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)	CHST8 (R77W)	Single nucleotide variant (missense variant)	Peeling skin syndrome type A +1 more	GConflicting classifications of pathogenicity
Select item 2275365	NM_001127895.2(CHST8):c.272C>T (p.Ala91Val)	CHST8 (A91V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3353231	NM_001127895.2(CHST8):c.377C>G (p.Pro126Arg)	CHST8 (P126R)	Single nucleotide variant (missense variant)	CHST8-related disorder	GLikely benign
Select item 3144766	NM_001127895.2(CHST8):c.389C>T (p.Ser130Leu)	CHST8 (S130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329805	NM_001127895.2(CHST8):c.415C>T (p.Pro139Ser)	CHST8 (P139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046750	NM_001127895.2(CHST8):c.417C>A (p.Pro139=)	CHST8	Single nucleotide variant (synonymous variant)	CHST8-related disorder	GLikely benign
Select item 3144767	NM_001127895.2(CHST8):c.442A>G (p.Ser148Gly)	CHST8 (S148G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144768	NM_001127895.2(CHST8):c.466C>A (p.Arg156Ser)	CHST8 (R156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144769	NM_001127895.2(CHST8):c.478A>G (p.Met160Val)	CHST8 (M160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375381	NM_001127895.2(CHST8):c.503G>C (p.Arg168Pro)	CHST8 (R168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774734	NM_001127895.2(CHST8):c.508AGC[4] (p.Ser172dup)	CHST8	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2253584	NM_001127895.2(CHST8):c.540C>A (p.His180Gln)	CHST8 (H180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693740	NM_001127895.2(CHST8):c.557T>C (p.Val186Ala)	CHST8 (V186A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3144770	NM_001127895.2(CHST8):c.565C>T (p.Arg189Cys)	CHST8 (R189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265330	NM_001127895.2(CHST8):c.620G>A (p.Arg207Gln)	CHST8 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317037	NM_001127895.2(CHST8):c.666C>G (p.Ile222Met)	CHST8 (I222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041302	NM_001127895.2(CHST8):c.702G>A (p.Lys234=)	CHST8	Single nucleotide variant (synonymous variant)	CHST8-related disorder	GBenign
Select item 3144771	NM_001127895.2(CHST8):c.754A>G (p.Thr252Ala)	CHST8 (T252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405144	NM_001127895.2(CHST8):c.815T>C (p.Phe272Ser)	CHST8 (F272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1225863	NM_001127895.2(CHST8):c.864G>T (p.Leu288=)	CHST8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3144772	NM_001127895.2(CHST8):c.869G>A (p.Arg290Gln)	CHST8 (R290Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245713	NM_001127895.2(CHST8):c.874C>T (p.Arg292Cys)	CHST8 (R292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350253	NM_001127895.2(CHST8):c.919C>G (p.Arg307Gly)	CHST8 (R307G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267252	NM_001127895.2(CHST8):c.944T>G (p.Leu315Arg)	CHST8 (L315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613214	NM_001127895.2(CHST8):c.959G>A (p.Arg320Gln)	CHST8 (R320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597832	NM_001127895.2(CHST8):c.1048A>G (p.Ser350Gly)	CHST8 (S350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514491	NM_001127895.2(CHST8):c.1105A>G (p.Thr369Ala)	CHST8 (T369A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259243	NM_001127895.2(CHST8):c.1141G>A (p.Ala381Thr)	CHST8 (A381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205600	NM_001127895.2(CHST8):c.1157G>C (p.Arg386Thr)	CHST8 (R386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242372	NM_001127895.2(CHST8):c.1193T>C (p.Leu398Pro)	CHST8 (L398P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489866	NM_001127895.2(CHST8):c.1199G>A (p.Arg400Lys)	CHST8 (R400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267251	NM_001127895.2(CHST8):c.1207A>G (p.Thr403Ala)	CHST8 (T403A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442995	GRCh37/hg19 19q13.11(chr19:33762256-34353184)x1	CEBPA, CEBPG +3 more	Copy number loss	See cases	GLikely benign
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 58