C1GALT1C1L[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 3135698	NM_001101330.3(C1GALT1C1L):c.908C>T (p.Thr303Ile)	C1GALT1C1L, PLEKHH2 (T303I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276236	NM_001101330.3(C1GALT1C1L):c.874C>T (p.Arg292Trp)	C1GALT1C1L, PLEKHH2 (R292W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135697	NM_001101330.3(C1GALT1C1L):c.865G>C (p.Gly289Arg)	C1GALT1C1L, PLEKHH2 (G289R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350061	NM_001101330.3(C1GALT1C1L):c.748C>A (p.Gln250Lys)	C1GALT1C1L, PLEKHH2 (Q250K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361675	NM_001101330.3(C1GALT1C1L):c.745G>A (p.Ala249Thr)	C1GALT1C1L, PLEKHH2 (A249T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135696	NM_001101330.3(C1GALT1C1L):c.739C>A (p.Pro247Thr)	C1GALT1C1L, PLEKHH2 (P247T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337632	NM_001101330.3(C1GALT1C1L):c.733A>G (p.Thr245Ala)	C1GALT1C1L, PLEKHH2 (T245A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262367	NM_001101330.3(C1GALT1C1L):c.554T>C (p.Ile185Thr)	C1GALT1C1L, PLEKHH2 (I185T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270050	NM_001101330.3(C1GALT1C1L):c.535G>A (p.Val179Met)	C1GALT1C1L, PLEKHH2 (V179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135695	NM_001101330.3(C1GALT1C1L):c.529G>A (p.Glu177Lys)	C1GALT1C1L, PLEKHH2 (E177K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262368	NM_001101330.3(C1GALT1C1L):c.496T>C (p.Tyr166His)	C1GALT1C1L, PLEKHH2 (Y166H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135694	NM_001101330.3(C1GALT1C1L):c.452A>G (p.Asn151Ser)	C1GALT1C1L, PLEKHH2 (N151S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135693	NM_001101330.3(C1GALT1C1L):c.446T>C (p.Ile149Thr)	C1GALT1C1L, PLEKHH2 (I149T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267137	NM_001101330.3(C1GALT1C1L):c.436T>A (p.Phe146Ile)	C1GALT1C1L, PLEKHH2 (F146I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135691	NM_001101330.3(C1GALT1C1L):c.425T>G (p.Leu142Arg)	C1GALT1C1L, PLEKHH2 (L142R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135690	NM_001101330.3(C1GALT1C1L):c.418C>T (p.Leu140Phe)	C1GALT1C1L, PLEKHH2 (L140F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262364	NM_001101330.3(C1GALT1C1L):c.399C>A (p.Asp133Glu)	C1GALT1C1L, PLEKHH2 (D133E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297467	NM_001101330.3(C1GALT1C1L):c.371A>C (p.Tyr124Ser)	C1GALT1C1L, PLEKHH2 (Y124S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135688	NM_001101330.3(C1GALT1C1L):c.357G>C (p.Gln119His)	C1GALT1C1L, PLEKHH2 (Q119H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293295	NM_001101330.3(C1GALT1C1L):c.348G>C (p.Arg116Ser)	C1GALT1C1L, PLEKHH2 (R116S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262365	NM_001101330.3(C1GALT1C1L):c.326T>C (p.Phe109Ser)	C1GALT1C1L, PLEKHH2 (F109S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135687	NM_001101330.3(C1GALT1C1L):c.323T>C (p.Leu108Ser)	C1GALT1C1L, PLEKHH2 (L108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213085	NM_001101330.3(C1GALT1C1L):c.278A>G (p.Lys93Arg)	C1GALT1C1L, PLEKHH2 (K93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518968	NM_001101330.3(C1GALT1C1L):c.151A>C (p.Asn51His)	C1GALT1C1L, PLEKHH2 (N51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622245	NM_001101330.3(C1GALT1C1L):c.121G>C (p.Glu41Gln)	C1GALT1C1L, PLEKHH2 (E41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262366	NM_001101330.3(C1GALT1C1L):c.103G>A (p.Gly35Ser)	C1GALT1C1L, PLEKHH2 (G35S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390273	NM_001101330.3(C1GALT1C1L):c.61G>A (p.Val21Ile)	C1GALT1C1L, PLEKHH2 (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135689	NM_001101330.3(C1GALT1C1L):c.37A>G (p.Met13Val)	C1GALT1C1L, PLEKHH2 (M13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394219	NM_001101330.3(C1GALT1C1L):c.30T>G (p.Phe10Leu)	C1GALT1C1L, PLEKHH2 (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404848	NM_001101330.3(C1GALT1C1L):c.17G>A (p.Gly6Glu)	C1GALT1C1L, PLEKHH2 (G6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 34