ClinVar for MedGen (Select 1677948) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688853	NM_024656.4(COLGALT1):c.513C>G (p.Ile171Met)	COLGALT1 (I171M)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GUncertain significance
Select item 2440504	NM_024656.4(COLGALT1):c.385G>A (p.Glu129Lys)	COLGALT1 (E129K)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GUncertain significance
Select item 2440503	NM_024656.4(COLGALT1):c.1355T>C (p.Met452Thr)	COLGALT1 (M452T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 917942	NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro)	COLGALT1 (L58P)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GLikely pathogenic
Select item 623641	NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg)	COLGALT1 (G377R)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GPathogenic
Select item 623640	NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro)	COLGALT1 (A154P)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GPathogenic
Select item 623639	NM_024656.4(COLGALT1):c.1096del (p.Glu366fs)	COLGALT1 (E366fs)	Deletion (frameshift variant)	Brain small vessel disease 3	GPathogenic
Select item 623638	NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg)	COLGALT1 (L151R)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GPathogenic

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