ClinVar for Gene (Select 9514) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3097985	NM_001318104.2(GAL3ST1):c.985C>G (p.Arg329Gly)	GAL3ST1 (R329G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097984	NM_001318104.2(GAL3ST1):c.523C>A (p.His175Asn)	GAL3ST1 (H175N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097983	NM_001318104.2(GAL3ST1):c.1019G>T (p.Arg340Leu)	GAL3ST1 (R365L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604727	NM_001318104.2(GAL3ST1):c.536C>T (p.Pro179Leu)	GAL3ST1 (P179L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592513	NM_001318104.2(GAL3ST1):c.198C>G (p.Asn66Lys)	GAL3ST1 (N66K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543263	NM_001318104.2(GAL3ST1):c.19A>C (p.Lys7Gln)	GAL3ST1 (K32Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476006	NM_001318104.2(GAL3ST1):c.771G>C (p.Glu257Asp)	GAL3ST1 (E258D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403987	NM_001318104.2(GAL3ST1):c.539T>C (p.Val180Ala)	GAL3ST1 (V181A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403535	NM_001318104.2(GAL3ST1):c.568G>A (p.Gly190Ser)	GAL3ST1 (G215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403100	NM_001318104.2(GAL3ST1):c.118G>A (p.Gly40Ser)	GAL3ST1 (G40S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402948	NM_001318104.2(GAL3ST1):c.23C>T (p.Pro8Leu)	GAL3ST1 (P33L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387825	NM_001318104.2(GAL3ST1):c.58G>A (p.Ala20Thr)	GAL3ST1 (A20T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366609	NM_001318104.2(GAL3ST1):c.468C>G (p.Asn156Lys)	GAL3ST1 (N156K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348036	NM_001318104.2(GAL3ST1):c.1050C>A (p.His350Gln)	GAL3ST1 (H351Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2265484	NM_001318104.2(GAL3ST1):c.1164G>C (p.Gln388His)	GAL3ST1 (Q389H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265483	NM_001318104.2(GAL3ST1):c.1163A>C (p.Gln388Pro)	GAL3ST1 (Q388P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246484	NM_001318104.2(GAL3ST1):c.364G>T (p.Ala122Ser)	GAL3ST1 (A122S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 1230435	NM_001318104.2(GAL3ST1):c.85G>A (p.Val29Met)	GAL3ST1 (V29M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 564994	GRCh37/hg19 22q12.2(chr22:30902886-31260395)x3	GAL3ST1, DUSP18 +5 more	Copy number gain	not provided	GUncertain significance
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 42