ClinVar for MedGen (Select 9329) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 997714	NM_001017361.3(KHDC3L):c.602C>G (p.Ala201Gly)	KHDC3L (A201G)	Single nucleotide variant (missense variant)	Hydatidiform mole	GBenign
Select item 997713	NC_000019.10:g.54947788G>A	NLRP7	Single nucleotide variant (genic upstream transcript variant)	Hydatidiform mole	GLikely benign
Select item 997712	NM_001127255.2(NLRP7):c.2982-28del	NCR1, NLRP7	Deletion (intron variant)	Hydatidiform mole	GLikely benign
Select item 997711	NM_001127255.2(NLRP7):c.2811-23A>G	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole	GBenign
Select item 997710	NM_001127255.2(NLRP7):c.2695C>T (p.Leu899Phe)	NCR1, NLRP7 (L871F +1 more)	Single nucleotide variant (missense variant)	Hydatidiform mole	GUncertain significance
Select item 997709	NM_001127255.2(NLRP7):c.2642+17TG[6]	NCR1, NLRP7	Microsatellite (intron variant)	Hydatidiform mole	GUncertain significance
Select item 997708	NM_001127255.2(NLRP7):c.1224_1232delGCGGGGCGCinsT (p.Arg409Alafs)	NLRP7 (R409fs)	Indel (frameshift variant)	Hydatidiform mole	GPathogenic
Select item 893861	NM_001127255.2(NLRP7):c.2706C>T (p.Ala902=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +1 more	GBenign/Likely benign
Select item 330164	NM_001127255.2(NLRP7):c.1725G>T (p.Leu575=)	NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole +1 more	GLikely benign
Select item 330158	NM_001127255.2(NLRP7):c.2682T>C (p.Tyr894=)	NCR1, NLRP7	Single nucleotide variant (synonymous variant)	Hydatidiform mole, recurrent, 1 +2 more	GBenign
Select item 97894	NM_001127255.2(NLRP7):c.-39-16C>T	NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole +1 more	GBenign
Select item 97796	NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs)	NLRP7 (E113fs)	Duplication (frameshift variant)	Hydatidiform mole	GPathogenic
Select item 97770	NM_001127255.2(NLRP7):c.2811-25G>C	NCR1, NLRP7	Single nucleotide variant (intron variant)	Hydatidiform mole	GBenign