C0175694[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 21

	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)	CLCN1-related disorder +4 more	GPathogenic
Select item 279778	NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	CLCN1 (P480fs)	Deletion (frameshift variant +1 more)	Congenital myotonia, autosomal dominant form +4 more	GPathogenic/Likely pathogenic
Select item 557359	NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)	DHCR7 (R443C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 21272	NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	DHCR7 (G410S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic
Select item 587952	NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)	DHCR7 (S397L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 458677	NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile)	DHCR7 (V340I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 420113	NM_001360.3(DHCR7):c.988G>A (p.Val330Met)	DHCR7 (V330M)	Single nucleotide variant (missense variant)	DHCR7-related disorder +3 more	GUncertain significance
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome +5 more	GPathogenic/Likely pathogenic
Select item 93724	NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	DHCR7 (V281M)	Single nucleotide variant (missense variant)	DHCR7-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 21275	NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	DHCR7 (R242C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 445437	NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)	DHCR7 (N240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 623647	NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	DHCR7 (W182*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21274	NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	DHCR7 (S169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 188923	NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	DHCR7 (T154M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 166988	NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	DHCR7 (T154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 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 381657	NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	DHCR7 (G147D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 6783	NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	DHCR7 (T93M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GPathogenic/Likely pathogenic
Select item 93714	NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	DHCR7 (A67T)	Single nucleotide variant (missense variant)	DHCR7-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 305960	NM_001360.3(DHCR7):c.99-5C>T	DHCR7	Single nucleotide variant (intron variant)	DHCR7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 6794	NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	DHCR7 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 21