85406[Gene ID] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3273098	NM_032364.6(DNAJC14):c.2074C>T (p.Arg692Trp)	DNAJC14 (R692W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273097	NM_032364.6(DNAJC14):c.2063C>G (p.Ala688Gly)	DNAJC14 (A648G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507701	NM_032364.6(DNAJC14):c.1979A>G (p.Asn660Ser)	DNAJC14 (N660S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544072	NM_032364.6(DNAJC14):c.1954C>G (p.Gln652Glu)	DNAJC14 (Q652E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084488	NM_032364.6(DNAJC14):c.1946G>A (p.Arg649Gln)	DNAJC14 (R609Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466383	NM_032364.6(DNAJC14):c.1820G>C (p.Gly607Ala)	DNAJC14 (G567A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084487	NM_032364.6(DNAJC14):c.1637G>A (p.Arg546Lys)	DNAJC14 (R546K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084486	NM_032364.6(DNAJC14):c.1605G>C (p.Met535Ile)	DNAJC14 (M535I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341940	NM_032364.6(DNAJC14):c.1259G>A (p.Arg420His)	DNAJC14 (R420H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084485	NM_032364.6(DNAJC14):c.1252A>C (p.Ser418Arg)	DNAJC14 (S418R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493451	NM_032364.6(DNAJC14):c.1250C>A (p.Ala417Asp)	DNAJC14 (A417D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386128	NM_032364.6(DNAJC14):c.1166G>A (p.Arg389Gln)	DNAJC14 (R389Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2412507	NM_032364.6(DNAJC14):c.1138C>A (p.Leu380Met)	DNAJC14 (L380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084484	NM_032364.6(DNAJC14):c.1127G>C (p.Arg376Pro)	DNAJC14 (R376P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531702	NM_032364.6(DNAJC14):c.1100C>A (p.Ser367Tyr)	DNAJC14 (S367Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341264	NM_032364.6(DNAJC14):c.1063C>T (p.Arg355Trp)	DNAJC14 (R355W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273096	NM_032364.6(DNAJC14):c.1058G>T (p.Gly353Val)	DNAJC14 (G353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223577	NM_032364.6(DNAJC14):c.983G>T (p.Gly328Val)	DNAJC14 (G328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315930	NM_032364.6(DNAJC14):c.904G>A (p.Ala302Thr)	DNAJC14 (A302T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339133	NM_032364.6(DNAJC14):c.823G>T (p.Ala275Ser)	DNAJC14 (A275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335195	NM_032364.6(DNAJC14):c.773T>A (p.Leu258Gln)	DNAJC14 (L258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084494	NM_032364.6(DNAJC14):c.749C>A (p.Ala250Glu)	DNAJC14 (A250E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276879	NM_032364.6(DNAJC14):c.730C>G (p.Leu244Val)	DNAJC14 (L244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368993	NM_032364.6(DNAJC14):c.665G>A (p.Arg222Gln)	DNAJC14 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084493	NM_032364.6(DNAJC14):c.635G>T (p.Arg212Leu)	DNAJC14 (R212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084492	NM_032364.6(DNAJC14):c.634C>A (p.Arg212Ser)	DNAJC14 (R212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681241	NM_032364.6(DNAJC14):c.632G>A (p.Gly211Glu)	DNAJC14 (G211E)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2464484	NM_032364.6(DNAJC14):c.620C>G (p.Thr207Ser)	DNAJC14 (T207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542850	NM_032364.6(DNAJC14):c.589C>G (p.Gln197Glu)	DNAJC14 (Q197E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273099	NM_032364.6(DNAJC14):c.522A>T (p.Glu174Asp)	DNAJC14 (E174D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084491	NM_032364.6(DNAJC14):c.503A>G (p.Glu168Gly)	DNAJC14 (E168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084490	NM_032364.6(DNAJC14):c.499T>G (p.Leu167Val)	DNAJC14 (L167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351136	NM_032364.6(DNAJC14):c.481G>A (p.Ala161Thr)	DNAJC14 (A161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252245	NM_032364.6(DNAJC14):c.411T>G (p.Ile137Met)	DNAJC14 (I137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599933	NM_032364.6(DNAJC14):c.383C>T (p.Ala128Val)	DNAJC14 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084489	NM_032364.6(DNAJC14):c.320T>A (p.Leu107His)	DNAJC14 (L107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273095	NM_032364.6(DNAJC14):c.275A>T (p.Gln92Leu)	DNAJC14 (Q92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273093	NM_032364.6(DNAJC14):c.274C>G (p.Gln92Glu)	DNAJC14 (Q92E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243641	NM_032364.6(DNAJC14):c.125C>T (p.Ser42Leu)	DNAJC14 (S42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459079	NM_032364.6(DNAJC14):c.91C>G (p.Pro31Ala)	DNAJC14 (P31A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331145	NM_032364.6(DNAJC14):c.85G>A (p.Val29Met)	DNAJC14 (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609992	NM_032364.6(DNAJC14):c.59C>T (p.Ala20Val)	DNAJC14 (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 50