C0175694[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280100	NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu)	CLCN1 (G285E)	Single nucleotide variant (missense variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GPathogenic
Select item 93709	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 21276	NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	DHCR7 (R242H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	DHCR7-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 93717	NM_001360.3(DHCR7):c.321+10C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 558502	NM_001360.3(DHCR7):c.160G>A (p.Val54Ile)	DHCR7 (V54I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 166620	NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 93726	NM_001360.3(DHCR7):c.99-4G>A	DHCR7, NADSYN1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign