Related gene-specific medical variations for Gene (Select 1717) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442157	NM_001360.3(DHCR7):c.99G>A (p.Trp33Ter)	DHCR7 (W33*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 1342621	NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter)	DHCR7 (W248*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 993669	NM_001360.3(DHCR7):c.662T>G (p.Met221Arg)	DHCR7 (M221R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990557	NM_001360.3(DHCR7):c.-145C>G	DHCR7	Single nucleotide variant (5 prime UTR variant +1 more)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990555	NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe)	DHCR7 (L152F)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990554	NM_001360.3(DHCR7):c.626+7T>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990553	NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala)	DHCR7 (T212A)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990552	NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu)	DHCR7 (P315L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990551	NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro)	DHCR7 (L320P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990550	NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val)	DHCR7 (I350V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990549	NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe)	DHCR7 (Y432F)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 975678	NM_001360.3(DHCR7):c.1105C>T (p.Leu369Phe)	DHCR7 (L369F)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 811611	NM_001360.3(DHCR7):c.606C>T (p.Phe202=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 618059	NM_001360.3(DHCR7):c.58A>G (p.Asn20Asp)	DHCR7 (N20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562391	NM_001360.3(DHCR7):c.895C>T (p.His299Tyr)	DHCR7 (H299Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 439593	NM_001360.3(DHCR7):c.627-29T>G	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GBenign
Select item 394257	GRCh37/hg19 11q13.4(chr11:71154800-71157788)x1	DHCR7	Copy number loss	See cases	GPathogenic
Select item 257965	NM_001360.3(DHCR7):c.321+34C>A	DHCR7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign