"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "C1GALT1 - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 849367	NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg)	C1GALT1C1 (G314R)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome +1 more	GUncertain significance
Select item 1553756	NM_001011551.3(C1GALT1C1):c.894A>G (p.Ala298=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2051173	NM_001011551.3(C1GALT1C1):c.666G>C (p.Gln222His)	C1GALT1C1 (Q222H)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 934543	NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg)	C1GALT1C1 (K221R)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 1078297	NM_001011551.3(C1GALT1C1):c.636G>A (p.Gly212=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2053791	NM_001011551.3(C1GALT1C1):c.606T>A (p.Asn202Lys)	C1GALT1C1 (N202K)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome +1 more	GUncertain significance
Select item 2086085	NM_001011551.3(C1GALT1C1):c.441G>A (p.Thr147=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2766586	NM_001011551.3(C1GALT1C1):c.440C>T (p.Thr147Met)	C1GALT1C1 (T147M)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 2693892	NM_001011551.3(C1GALT1C1):c.430C>T (p.Arg144Cys)	C1GALT1C1 (R144C)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 460285	NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val)	C1GALT1C1 (A143V)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome +1 more	GBenign
Select item 10792	NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu)	C1GALT1C1 (D131E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2961365	NM_001011551.3(C1GALT1C1):c.338T>C (p.Met113Thr)	C1GALT1C1 (M113T)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 1402703	NM_001011551.3(C1GALT1C1):c.317A>G (p.Lys106Arg)	C1GALT1C1 (K106R)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 791741	NM_001011551.3(C1GALT1C1):c.302G>A (p.Ser101Asn)	C1GALT1C1 (S101N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 760426	NM_001011551.3(C1GALT1C1):c.216T>C (p.Ile72=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 934542	NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys)	C1GALT1C1 (R60C)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome +1 more	GUncertain significance
Select item 1479927	NM_001011551.3(C1GALT1C1):c.152A>G (p.Asp51Gly)	C1GALT1C1 (D51G)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 648495	NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser)	C1GALT1C1 (P47S)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GUncertain significance
Select item 2863738	NM_001011551.3(C1GALT1C1):c.135A>G (p.Gln45=)	C1GALT1C1	Single nucleotide variant (synonymous variant)	Polyagglutinable erythrocyte syndrome	GLikely benign
Select item 739307	NM_001011551.3(C1GALT1C1):c.70A>G (p.Met24Val)	C1GALT1C1 (M24V)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GBenign
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	AKAP14, ATP1B4 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 23