"Ambry Genetics"[submitter] AND "DNAJA3"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2360538	NM_005147.6(DNAJA3):c.8C>T (p.Ala3Val)	DNAJA3 (A3V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273017	NM_005147.6(DNAJA3):c.11G>A (p.Arg4Gln)	DNAJA3 (R4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084365	NM_005147.6(DNAJA3):c.14G>T (p.Cys5Phe)	DNAJA3 (C5F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601087	NM_005147.6(DNAJA3):c.22C>G (p.Arg8Gly)	DNAJA3 (R8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084367	NM_005147.6(DNAJA3):c.29T>G (p.Leu10Trp)	DNAJA3 (L10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084368	NM_005147.6(DNAJA3):c.49C>A (p.Pro17Thr)	DNAJA3 (P17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482825	NM_005147.6(DNAJA3):c.58C>T (p.Pro20Ser)	DNAJA3 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588707	NM_005147.6(DNAJA3):c.61G>A (p.Ala21Thr)	DNAJA3 (A21T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594246	NM_005147.6(DNAJA3):c.65T>C (p.Ile22Thr)	DNAJA3 (I22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399400	NM_005147.6(DNAJA3):c.68C>T (p.Ser23Leu)	DNAJA3 (S23L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3273019	NM_005147.6(DNAJA3):c.92G>A (p.Arg31Lys)	DNAJA3 (R31K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512921	NM_005147.6(DNAJA3):c.98G>T (p.Gly33Val)	DNAJA3 (G33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551835	NM_005147.6(DNAJA3):c.137C>T (p.Pro46Leu)	DNAJA3 (P46L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385790	NM_005147.6(DNAJA3):c.145G>A (p.Ala49Thr)	DNAJA3 (C12Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340718	NM_005147.6(DNAJA3):c.149C>T (p.Ser50Phe)	DNAJA3 (S50F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549698	NM_005147.6(DNAJA3):c.158C>T (p.Thr53Ile)	DNAJA3 (T53I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601325	NM_005147.6(DNAJA3):c.163T>C (p.Cys55Arg)	DNAJA3 (C55R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379128	NM_005147.6(DNAJA3):c.170C>T (p.Pro57Leu)	DNAJA3 (P57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084366	NM_005147.6(DNAJA3):c.181C>G (p.Leu61Val)	DNAJA3 (L61V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319763	NM_005147.6(DNAJA3):c.190A>G (p.Arg64Gly)	DNAJA3 (E27G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273015	NM_005147.6(DNAJA3):c.203G>A (p.Ser68Asn)	DNAJA3 (S68N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248054	NM_005147.6(DNAJA3):c.245C>T (p.Ser82Phe)	DNAJA3 (S82F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3273014	NM_005147.6(DNAJA3):c.253A>C (p.Thr85Pro)	DNAJA3 (T85P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617673	NM_005147.6(DNAJA3):c.274G>A (p.Glu92Lys)	DNAJA3 (E92K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310880	NM_005147.6(DNAJA3):c.458A>G (p.Gln153Arg)	DNAJA3 (Q153R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084370	NM_005147.6(DNAJA3):c.506C>G (p.Ser169Cys)	DNAJA3 (S169C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252681	NM_005147.6(DNAJA3):c.532C>G (p.Pro178Ala)	DNAJA3 (P178A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315197	NM_005147.6(DNAJA3):c.552G>T (p.Glu184Asp)	DNAJA3 (E184D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469791	NM_005147.6(DNAJA3):c.589T>G (p.Ser197Ala)	DNAJA3 (S44A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084371	NM_005147.6(DNAJA3):c.604C>G (p.Gln202Glu)	DNAJA3 (Q202E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225972	NM_005147.6(DNAJA3):c.713G>A (p.Arg238His)	DNAJA3 (R238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467522	NM_005147.6(DNAJA3):c.733G>A (p.Glu245Lys)	DNAJA3 (E92K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309459	NM_005147.6(DNAJA3):c.739G>C (p.Gly247Arg)	DNAJA3 (G94R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260526	NM_005147.6(DNAJA3):c.812T>C (p.Met271Thr)	DNAJA3 (M118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273018	NM_005147.6(DNAJA3):c.815G>A (p.Arg272His)	DNAJA3 (R272H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209317	NM_005147.6(DNAJA3):c.850A>G (p.Ile284Val)	DNAJA3 (I131V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084362	NM_005147.6(DNAJA3):c.1027G>A (p.Gly343Ser)	DNAJA3 (G343S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084363	NM_005147.6(DNAJA3):c.1064C>T (p.Ala355Val)	DNAJA3 (A355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595595	NM_005147.6(DNAJA3):c.1105T>C (p.Tyr369His)	DNAJA3 (Y216H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369343	NM_005147.6(DNAJA3):c.1198G>A (p.Gly400Ser)	DNAJA3 (G247S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529001	NM_005147.6(DNAJA3):c.1201T>C (p.Tyr401His)	DNAJA3 (Y401H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318954	NM_005147.6(DNAJA3):c.1255C>T (p.Arg419Trp)	DNAJA3 (R266W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604137	NM_005147.6(DNAJA3):c.1256G>A (p.Arg419Gln)	DNAJA3 (R266Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219820	NM_005147.6(DNAJA3):c.1264A>C (p.Ser422Arg)	DNAJA3 (S269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273016	NM_005147.6(DNAJA3):c.1316A>G (p.Asn439Ser)	DNAJA3 (N439S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084364	NM_005147.6(DNAJA3):c.1327C>T (p.Leu443Phe)	DNAJA3 (L290F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595512	NM_005147.6(DNAJA3):c.1363G>A (p.Ala455Thr)	DNAJA3 (A455T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354266	NM_005147.6(DNAJA3):c.1382G>A (p.Arg461His)	DNAJA3 (R461H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392864	NM_005147.6(DNAJA3):c.1427A>G (p.Lys476Arg)	DNAJA3 (K476R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 49