Related gene-specific medical variations for Gene (Select 56912) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339875	NM_001655.5(ARCN1):c.-3A>G	ARCN1, IFT46	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3285431	NM_001168618.2(IFT46):c.860C>T (p.Pro287Leu)	IFT46, TMEM25 (P287L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108401	NM_001168618.2(IFT46):c.904A>G (p.Thr302Ala)	IFT46, TMEM25 (T353A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531720	NM_001168618.2(IFT46):c.807C>G (p.Phe269Leu)	IFT46, TMEM25 (F269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528901	NM_001168618.2(IFT46):c.724A>G (p.Met242Val)	IFT46, TMEM25 (M242V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459243	NM_001168618.2(IFT46):c.709G>A (p.Ala237Thr)	IFT46, TMEM25 (A237T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405435	NM_001168618.2(IFT46):c.764G>A (p.Arg255Gln)	IFT46, TMEM25 (R255Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326049	NM_001168618.2(IFT46):c.869A>G (p.Asn290Ser)	IFT46, TMEM25 (N290S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2110616	NM_001655.5(ARCN1):c.3+16G>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965357	NM_001655.5(ARCN1):c.3+9C>A	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718664	NM_001655.5(ARCN1):c.3+8C>T	ARCN1, IFT46	Single nucleotide variant (intron variant)	not provided	GBenign