JDP2[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 2622293	NM_001135048.2(JDP2):c.-24+4078G>A	JDP2 (V2I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2294225	NM_001135048.2(JDP2):c.2T>C (p.Met1Thr)	JDP2 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605601	NM_001135048.2(JDP2):c.13C>A (p.Gln5Lys)	JDP2 (Q16K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299545	NM_001135048.2(JDP2):c.83C>T (p.Ser28Leu)	JDP2 (S28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339416	NM_001135048.2(JDP2):c.112G>A (p.Ala38Thr)	JDP2 (A49T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3112307	NM_001135048.2(JDP2):c.130G>A (p.Gly44Arg)	JDP2 (G55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287191	NM_001135048.2(JDP2):c.136A>G (p.Met46Val)	JDP2 (M46V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544960	NM_001135048.2(JDP2):c.172G>A (p.Gly58Ser)	JDP2 (G58S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495592	NM_001135048.2(JDP2):c.190G>T (p.Val64Leu)	JDP2 (V75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112308	NM_001135048.2(JDP2):c.194A>T (p.Lys65Ile)	JDP2 (K65I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234729	NM_001135048.2(JDP2):c.236G>A (p.Arg79Gln)	JDP2 (R90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311076	NM_001135048.2(JDP2):c.253G>A (p.Ala85Thr)	JDP2 (A96T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287192	NM_001135048.2(JDP2):c.290C>T (p.Thr97Met)	JDP2 (T97M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112309	NM_001135048.2(JDP2):c.304C>T (p.Arg102Trp)	JDP2 (R113W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112310	NM_001135048.2(JDP2):c.334G>A (p.Ala112Thr)	JDP2 (A112T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112311	NM_001135048.2(JDP2):c.374G>A (p.Arg125Gln)	JDP2 (R125Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507745	NM_001135048.2(JDP2):c.440A>G (p.Lys147Arg)	JDP2 (K158R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 688829	GRCh37/hg19 14q24.3(chr14:75938193-76104307)x3	BATF, FLVCR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686086	GRCh37/hg19 14q24.3(chr14:75938193-76098127)x3	BATF, FLVCR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 34