"See cases"[Disease/phenotype] AND "Hadassah Hebrew University Medical - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 2627107	NM_014398.4(LAMP3):c.862G>A (p.Gly288Arg)	LAMP3 (G288R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 3233345	NM_006379.5(SEMA3C):c.1711+3A>T	SEMA3C	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2627108	NM_001202438.2(EDRF1):c.2140C>T (p.Arg714Ter)	EDRF1 (R680* +1 more)	Single nucleotide variant (nonsense +1 more)	See cases	GUncertain significance
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 99527	NM_000372.5(TYR):c.1037-7T>A	TYR	Single nucleotide variant (intron variant)	Albinism or congenital nystagmus +10 more	GPathogenic/Likely pathogenic
Select item 3233346	NM_001265.6(CDX2):c.10del (p.Ser4fs)	CDX2 (S4fs)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 1301850	NM_080704.4(TRPV1):c.993C>G (p.Asn331Lys)	TRPV1 (N331K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2627106	NM_001033002.4(RPAIN):c.490-6T>C	RPAIN	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2627105	NM_021078.3(KAT2A):c.2032_2055del (p.Leu678_Gln685del)	KAT2A	Deletion (inframe_deletion)	See cases	GLikely pathogenic
Select item 3237201	NM_001382309.1(ATXN7L3):c.340C>T (p.Arg114Ter)	ATXN7L3 (R114* +1 more)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 3237202	NM_001382309.1(ATXN7L3):c.334dup (p.Ser112fs)	ATXN7L3 (S112fs +1 more)	Duplication (frameshift variant)	See cases	GUncertain significance
Select item 3237205	NM_001382309.1(ATXN7L3):c.317T>C (p.Leu106Pro)	ATXN7L3 (L106P +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3237204	NM_001382309.1(ATXN7L3):c.276C>G (p.Ser92Arg)	ATXN7L3 (S92R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3237203	NM_001382309.1(ATXN7L3):c.212T>C (p.Ile71Thr)	ATXN7L3 (I71T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3233344	NM_199129.4(PEDS1):c.104del (p.Ala35fs)	LOC130066127, PEDS1 +1 more (A35fs)	Deletion (frameshift variant +1 more)	See cases	GUncertain significance
Select item 120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS (I278T +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +7 more	GPathogenic