Related gene-specific medical variations for Gene (Select 63929) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362463	NM_022098.4(XPNPEP3):c.1345A>G (p.Thr449Ala)	XPNPEP3 (T449A)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 3273046	NM_145174.2(DNAJB7):c.239T>C (p.Phe80Ser)	DNAJB7, XPNPEP3 (F80S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273045	NM_145174.2(DNAJB7):c.643G>T (p.Asp215Tyr)	DNAJB7, XPNPEP3 (D215Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273044	NM_145174.2(DNAJB7):c.185G>A (p.Arg62Gln)	DNAJB7, XPNPEP3 (R62Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273043	NM_145174.2(DNAJB7):c.364C>G (p.Arg122Gly)	DNAJB7, XPNPEP3 (R122G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084417	NM_145174.2(DNAJB7):c.926G>C (p.Cys309Ser)	DNAJB7, XPNPEP3 (C309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084416	NM_145174.2(DNAJB7):c.890G>A (p.Arg297His)	DNAJB7, XPNPEP3 (R297H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3084415	NM_145174.2(DNAJB7):c.869G>A (p.Gly290Asp)	DNAJB7, XPNPEP3 (G290D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084414	NM_145174.2(DNAJB7):c.806G>A (p.Gly269Asp)	DNAJB7, XPNPEP3 (G269D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084413	NM_145174.2(DNAJB7):c.688G>A (p.Glu230Lys)	DNAJB7, XPNPEP3 (E230K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084412	NM_145174.2(DNAJB7):c.661T>G (p.Phe221Val)	DNAJB7, XPNPEP3 (F221V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084410	NM_145174.2(DNAJB7):c.556T>C (p.Ser186Pro)	DNAJB7, XPNPEP3 (S186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084409	NM_145174.2(DNAJB7):c.410T>G (p.Phe137Cys)	DNAJB7, XPNPEP3 (F137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084408	NM_145174.2(DNAJB7):c.365G>A (p.Arg122His)	DNAJB7, XPNPEP3 (R122H)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3084407	NM_145174.2(DNAJB7):c.308A>C (p.Glu103Ala)	DNAJB7, XPNPEP3 (E103A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084406	NM_145174.2(DNAJB7):c.275A>C (p.Lys92Thr)	DNAJB7, XPNPEP3 (K92T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3084403	NM_145174.2(DNAJB7):c.14A>G (p.Tyr5Cys)	DNAJB7, XPNPEP3 (Y5C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605662	NM_145174.2(DNAJB7):c.877A>G (p.Lys293Glu)	DNAJB7, XPNPEP3 (K293E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605292	NM_145174.2(DNAJB7):c.160G>A (p.Glu54Lys)	DNAJB7, XPNPEP3 (E54K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533335	NM_145174.2(DNAJB7):c.490G>C (p.Gly164Arg)	DNAJB7, XPNPEP3 (G164R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525448	NM_145174.2(DNAJB7):c.246T>G (p.Asp82Glu)	DNAJB7, XPNPEP3 (D82E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474349	NM_145174.2(DNAJB7):c.600T>A (p.Asn200Lys)	DNAJB7, XPNPEP3 (N200K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467934	NM_145174.2(DNAJB7):c.496G>A (p.Glu166Lys)	DNAJB7, XPNPEP3 (E166K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456193	NM_145174.2(DNAJB7):c.368C>T (p.Pro123Leu)	DNAJB7, XPNPEP3 (P123L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406297	NM_145174.2(DNAJB7):c.5T>A (p.Val2Glu)	DNAJB7, XPNPEP3 (V2E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397093	NM_145174.2(DNAJB7):c.123A>T (p.Glu41Asp)	DNAJB7, XPNPEP3 (E41D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384091	NM_145174.2(DNAJB7):c.114T>G (p.Asn38Lys)	DNAJB7, XPNPEP3 (N38K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2380467	NM_145174.2(DNAJB7):c.250T>C (p.Cys84Arg)	DNAJB7, XPNPEP3 (C84R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365386	NM_145174.2(DNAJB7):c.19G>A (p.Val7Ile)	DNAJB7, XPNPEP3 (V7I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338939	NM_145174.2(DNAJB7):c.51G>C (p.Glu17Asp)	DNAJB7, XPNPEP3 (E17D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317628	NM_145174.2(DNAJB7):c.841A>G (p.Ile281Val)	DNAJB7, XPNPEP3 (I281V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317588	NM_145174.2(DNAJB7):c.542T>C (p.Met181Thr)	DNAJB7, XPNPEP3 (M181T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314863	NM_145174.2(DNAJB7):c.920G>A (p.Arg307Lys)	DNAJB7, XPNPEP3 (R307K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298332	NM_145174.2(DNAJB7):c.442G>C (p.Glu148Gln)	DNAJB7, XPNPEP3 (E148Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273559	NM_145174.2(DNAJB7):c.283G>T (p.Asp95Tyr)	DNAJB7, XPNPEP3 (D95Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269693	NM_145174.2(DNAJB7):c.35G>A (p.Arg12Lys)	DNAJB7, XPNPEP3 (R12K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260224	NM_145174.2(DNAJB7):c.149C>G (p.Ala50Gly)	DNAJB7, XPNPEP3 (A50G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240095	NM_145174.2(DNAJB7):c.297A>C (p.Glu99Asp)	DNAJB7, XPNPEP3 (E99D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223957	NM_145174.2(DNAJB7):c.197A>G (p.Asp66Gly)	DNAJB7, XPNPEP3 (D66G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1712364	NM_022098.4(XPNPEP3):c.64+4586dup	DNAJB7, XPNPEP3 (L56fs)	Duplication (frameshift variant +2 more)	Kidney disorder	GBenign
Select item 591629	NM_022098.4(XPNPEP3):c.62C>A (p.Ser21Ter)	XPNPEP3 (S21*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41