"Ambry Genetics"[submitter] AND "KRTCAP3"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2275775	NM_173853.4(KRTCAP3):c.41G>T (p.Gly14Val)	KRTCAP3 (G14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117173	NM_173853.4(KRTCAP3):c.61G>A (p.Val21Met)	KRTCAP3 (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245452	NM_173853.4(KRTCAP3):c.62T>C (p.Val21Ala)	KRTCAP3 (V21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622587	NM_173853.4(KRTCAP3):c.109G>T (p.Ala37Ser)	KRTCAP3 (A37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117168	NM_173853.4(KRTCAP3):c.124A>G (p.Thr42Ala)	KRTCAP3 (T42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117169	NM_173853.4(KRTCAP3):c.203C>T (p.Ser68Leu)	KRTCAP3 (S68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482376	NM_173853.4(KRTCAP3):c.208C>G (p.Leu70Val)	KRTCAP3 (L70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318441	NM_173853.4(KRTCAP3):c.262C>A (p.Arg88Ser)	KRTCAP3 (R88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355713	NM_173853.4(KRTCAP3):c.289G>A (p.Ala97Thr)	KRTCAP3 (A97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350850	NM_173853.4(KRTCAP3):c.306C>A (p.Asn102Lys)	KRTCAP3 (N102K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223003	NM_173853.4(KRTCAP3):c.337C>T (p.Leu113Phe)	KRTCAP3 (L113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117171	NM_173853.4(KRTCAP3):c.350T>G (p.Val117Gly)	KRTCAP3 (V117G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379619	NM_173853.4(KRTCAP3):c.371G>A (p.Gly124Asp)	KRTCAP3 (G124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289778	NM_173853.4(KRTCAP3):c.380G>A (p.Arg127His)	KRTCAP3 (R127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117172	NM_173853.4(KRTCAP3):c.437G>A (p.Gly146Glu)	KRTCAP3 (G146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465392	NM_173853.4(KRTCAP3):c.562G>A (p.Ala188Thr)	KRTCAP3 (A188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276782	NM_173853.4(KRTCAP3):c.593G>A (p.Arg198Lys)	KRTCAP3 (R198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613476	NM_173853.4(KRTCAP3):c.600C>A (p.Asp200Glu)	KRTCAP3 (D200E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604184	NM_173853.4(KRTCAP3):c.611G>A (p.Gly204Glu)	KRTCAP3 (G204E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496415	NM_173853.4(KRTCAP3):c.670C>G (p.Gln224Glu)	KRTCAP3 (Q224E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288371	NM_173853.4(KRTCAP3):c.701C>T (p.Ala234Val)	KRTCAP3 (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260801	NM_015662.3(IFT172):c.5229C>A (p.Ser1743Arg)	IFT172, KRTCAP3 (S1721R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275558	NM_015662.3(IFT172):c.5159A>C (p.Lys1720Thr)	IFT172, KRTCAP3 (K1698T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 968095	NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)	IFT172, KRTCAP3 (M1717L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1007656	NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)	IFT172, KRTCAP3 (D1710N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2198491	NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)	IFT172, KRTCAP3 (A1706T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1461096	NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)	KRTCAP3, IFT172 (P1685S +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1423606	NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)	IFT172, KRTCAP3 (A1669T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1036252	NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)	IFT172, KRTCAP3 (E1666K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 964187	NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)	KRTCAP3, IFT172 (R1664Q +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 3108388	NM_015662.3(IFT172):c.4970G>A (p.Arg1657Gln)	IFT172, KRTCAP3 (R1635Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3108387	NM_015662.3(IFT172):c.4941C>G (p.Asp1647Glu)	IFT172, KRTCAP3 (D1647E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1001774	NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)	IFT172, KRTCAP3 (R1646Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 2290724	NM_015662.3(IFT172):c.4913C>T (p.Pro1638Leu)	IFT172, KRTCAP3 (P1616L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1412948	NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro)	IFT172, KRTCAP3	Duplication (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1390257	NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly)	IFT172, KRTCAP3 (D1616G +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 662250	NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)	IFT172, KRTCAP3 (R1559S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance

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Items: 37