C1GALT1C1[gene] and "single gene"[properties] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262363	NM_001011551.3(C1GALT1C1):c.950A>G (p.Asn317Ser)	C1GALT1C1 (N317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2552478	NM_001011551.3(C1GALT1C1):c.763A>G (p.Ile255Val)	C1GALT1C1 (I255V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605789	NM_001011551.3(C1GALT1C1):c.755G>A (p.Gly252Glu)	C1GALT1C1 (G252E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified +1 more	GUncertain significance
Select item 2204275	NM_001011551.3(C1GALT1C1):c.597C>G (p.Ser199Arg)	C1GALT1C1 (S199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 39573	NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro)	C1GALT1C1 (S193P)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GPathogenic
Select item 873539	NM_001011551.3(C1GALT1C1):c.540T>G (p.Tyr180Ter)	C1GALT1C1 (Y180*)	Single nucleotide variant (nonsense)	Polyagglutinable erythrocyte syndrome	GPathogenic
Select item 2603253	NM_001011551.3(C1GALT1C1):c.515C>G (p.Thr172Ser)	C1GALT1C1 (T172S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545286	NM_001011551.3(C1GALT1C1):c.513C>A (p.His171Gln)	C1GALT1C1 (H171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 10793	NM_001011551.3(C1GALT1C1):c.454G>A (p.Glu152Lys)	C1GALT1C1 (E152K)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	GPathogenic
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 2280473	NM_001011551.3(C1GALT1C1):c.391G>A (p.Asp131Asn)	C1GALT1C1 (D131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2506572	NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)	C1GALT1C1 (T89I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome	GPathogenic
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 10791	NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter)	C1GALT1C1 (R68*)	Single nucleotide variant (nonsense)	Polyagglutinable erythrocyte syndrome	GPathogenic
Select item 3026056	NM_001011551.3(C1GALT1C1):c.193A>G (p.Lys65Glu)	C1GALT1C1 (K65E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934542	NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys)	C1GALT1C1 (R60C)	Single nucleotide variant (missense variant)	Polyagglutinable erythrocyte syndrome	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 1675199	NM_001011551.3(C1GALT1C1):c.59C>A (p.Ala20Asp)	C1GALT1C1 (A20D)	Single nucleotide variant (missense variant)	Abnormal protein O-linked glycosylation	GLikely pathogenic
Select item 39574	NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile)	C1GALT1C1 (M1I)	Single nucleotide variant (missense variant +1 more)	Polyagglutinable erythrocyte syndrome	GPathogenic

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Items: 35