Related gene-specific medical variations for Gene (Select 56992) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179485	NM_144638.3(TMEM42):c.385T>C (p.Trp129Arg)	KIF15, TMEM42 (W129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179484	NM_144638.3(TMEM42):c.26G>T (p.Gly9Val)	KIF15, LOC129936609 +2 more (G9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179483	NM_144638.3(TMEM42):c.252G>A (p.Met84Ile)	KIF15, TMEM42 (M84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179482	NM_144638.3(TMEM42):c.184G>C (p.Gly62Arg)	KIF15, TMEM42 (G62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179481	NM_144638.3(TMEM42):c.176T>C (p.Leu59Pro)	KIF15, TMEM42 (L59P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179480	NM_144638.3(TMEM42):c.16G>T (p.Gly6Trp)	KIF15, LOC129936609 +2 more (G6W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179479	NM_144638.3(TMEM42):c.149G>A (p.Gly50Glu)	KIF15, TMEM42 (G50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179478	NM_144638.3(TMEM42):c.106C>T (p.Arg36Cys)	KIF15, LOC129936610 +1 more (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065669	NM_020242.3(KIF15):c.1830-2A>C	KIF15	Single nucleotide variant (splice acceptor variant)	Braddock-carey syndrome 2	GLikely pathogenic
Select item 2528658	NM_144638.3(TMEM42):c.13C>T (p.Pro5Ser)	KIF15, LOC129936609 +2 more (P5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475437	NM_144638.3(TMEM42):c.460C>T (p.Leu154Phe)	KIF15, TMEM42 (L154F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370309	NM_144638.3(TMEM42):c.239C>T (p.Thr80Ile)	KIF15, TMEM42 (T80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359659	NM_144638.3(TMEM42):c.317C>T (p.Thr106Ile)	KIF15, TMEM42 (T106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308580	NM_144638.3(TMEM42):c.422C>G (p.Thr141Ser)	KIF15, TMEM42 (T141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297828	NM_144638.3(TMEM42):c.14C>T (p.Pro5Leu)	KIF15, LOC129936609 +2 more (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293931	NM_144638.3(TMEM42):c.410T>C (p.Leu137Pro)	TMEM42, KIF15 (L137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235831	NM_144638.3(TMEM42):c.17G>A (p.Gly6Glu)	KIF15, LOC129936609 +2 more (G6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221631	NM_144638.3(TMEM42):c.409C>A (p.Leu137Ile)	KIF15, TMEM42 (L137I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance