JPH4[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 3112510	NM_001146028.2(JPH4):c.1792C>A (p.Pro598Thr)	JPH4 (P598T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205008	NM_001146028.2(JPH4):c.1778C>G (p.Ala593Gly)	JPH4 (A593G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112508	NM_001146028.2(JPH4):c.1768G>A (p.Gly590Arg)	JPH4 (G590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539594	NM_001146028.2(JPH4):c.1766T>A (p.Leu589His)	JPH4 (L589H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287254	NM_001146028.2(JPH4):c.1747G>C (p.Gly583Arg)	JPH4 (G583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343809	NM_001146028.2(JPH4):c.1747G>A (p.Gly583Arg)	JPH4 (G583R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112507	NM_001146028.2(JPH4):c.1745C>G (p.Ala582Gly)	JPH4 (A582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394136	NM_001146028.2(JPH4):c.1744G>A (p.Ala582Thr)	JPH4 (A582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591572	NM_001146028.2(JPH4):c.1663C>G (p.Pro555Ala)	JPH4 (P555A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470294	NM_001146028.2(JPH4):c.1646A>G (p.Asp549Gly)	JPH4 (D549G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391333	NM_001146028.2(JPH4):c.1633G>C (p.Glu545Gln)	JPH4 (E545Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407335	NM_001146028.2(JPH4):c.1624C>T (p.Leu542Phe)	JPH4 (L542F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410036	NM_001146028.2(JPH4):c.1574C>G (p.Pro525Arg)	JPH4 (P525R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269108	NM_001146028.2(JPH4):c.1502G>A (p.Gly501Glu)	JPH4 (G501E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287252	NM_001146028.2(JPH4):c.1501G>C (p.Gly501Arg)	JPH4 (G501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112505	NM_001146028.2(JPH4):c.1501G>T (p.Gly501Trp)	JPH4 (G501W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252255	NM_001146028.2(JPH4):c.1499G>A (p.Gly500Glu)	JPH4 (G500E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397491	NM_001146028.2(JPH4):c.1496G>T (p.Trp499Leu)	JPH4 (W499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393403	NM_001146028.2(JPH4):c.1487C>T (p.Pro496Leu)	JPH4 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472898	NM_001146028.2(JPH4):c.1481C>T (p.Ala494Val)	JPH4 (A494V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243563	NM_001146028.2(JPH4):c.1415G>A (p.Arg472Gln)	JPH4 (R472Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112504	NM_001146028.2(JPH4):c.1393G>A (p.Ala465Thr)	JPH4 (A465T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266066	NM_001146028.2(JPH4):c.1220G>A (p.Arg407Gln)	JPH4 (R407Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460996	NM_001146028.2(JPH4):c.1207G>A (p.Val403Met)	JPH4 (V403M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644125	NM_001146028.2(JPH4):c.1194C>T (p.Val398=)	JPH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3112503	NM_001146028.2(JPH4):c.1178T>C (p.Val393Ala)	JPH4 (V393A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287253	NM_001146028.2(JPH4):c.1126C>G (p.Gln376Glu)	JPH4 (Q376E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268570	NM_001146028.2(JPH4):c.987G>C (p.Glu329Asp)	JPH4 (E329D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287255	NM_001146028.2(JPH4):c.980G>A (p.Arg327His)	JPH4 (R327H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112512	NM_001146028.2(JPH4):c.743T>C (p.Val248Ala)	JPH4 (V248A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509653	NM_001146028.2(JPH4):c.712G>A (p.Gly238Ser)	JPH4 (G238S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112511	NM_001146028.2(JPH4):c.646G>A (p.Gly216Ser)	JPH4 (G216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272973	NM_001146028.2(JPH4):c.641C>T (p.Ala214Val)	JPH4 (A214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277594	NM_001146028.2(JPH4):c.524C>G (p.Pro175Arg)	JPH4 (P175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287256	NM_001146028.2(JPH4):c.250C>A (p.Arg84Ser)	JPH4 (R84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263138	NM_001146028.2(JPH4):c.118A>C (p.Ser40Arg)	JPH4 (S40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 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 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 57