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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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_145174.2(DNAJB7):c.164dup (p.Leu56fs)	XPNPEP3, DNAJB7 (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

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Links from Gene

Items: 36