"Baylor Genetics"[submitter] AND "MEGF8"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561058	NM_001271938.2(MEGF8):c.1788+1G>C	MEGF8	Single nucleotide variant (splice donor variant)	MEGF8-related Carpenter syndrome	GPathogenic
Select item 577904	NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg)	MEGF8 (H750R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +2 more	GUncertain significance
Select item 567834	NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg)	MEGF8 (G818R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1030393	NM_001271938.2(MEGF8):c.2843C>G (p.Pro948Arg)	MEGF8 (P881R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 546842	NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp)	MEGF8 (R937W +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +2 more	GUncertain significance
Select item 800241	NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)	MEGF8 (W1052R +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GConflicting classifications of pathogenicity
Select item 561155	NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu)	MEGF8 (P1020L +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 2433737	NM_001271938.2(MEGF8):c.3964C>T (p.Pro1322Ser)	MEGF8 (P1255S +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 1033836	NM_001271938.2(MEGF8):c.4333C>T (p.Arg1445Cys)	MEGF8 (R1445C +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 1030394	NM_001271938.2(MEGF8):c.5023C>T (p.His1675Tyr)	MEGF8 (H1608Y +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 561156	NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser)	MEGF8 (A2037S +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome +1 more	GUncertain significance
Select item 1030395	NM_001271938.2(MEGF8):c.7033A>G (p.Ser2345Gly)	MEGF8 (S2278G +1 more)	Single nucleotide variant (missense variant)	MEGF8-related Carpenter syndrome	GUncertain significance
Select item 218579	NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met)	MEGF8 (V2525M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance