JPH1[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 560150	Single allele	ELOC, GDAP1 +19 more	Deletion	Charcot-Marie-Tooth disease axonal type 2K	GUncertain significance
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 58992	GRCh38/hg38 8q21.11-21.13(chr8:73962355-74749460)x1	ELOC, GDAP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 658994	NC_000008.10:g.(?_74888497)_(75274233_?)dup	GDAP1, JPH1 +13 more	Duplication	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2460732	NM_020647.4(JPH1):c.1972C>T (p.His658Tyr)	JPH1 (H658Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112461	NM_020647.4(JPH1):c.1894G>C (p.Glu632Gln)	JPH1 (E632Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112460	NM_020647.4(JPH1):c.1866C>G (p.Ser622Arg)	JPH1 (S622R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768245	NM_020647.4(JPH1):c.1830G>A (p.Lys610=)	JPH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2683804	NM_020647.4(JPH1):c.1738del (p.Leu580fs)	JPH1 (L580fs)	Deletion (frameshift variant)	Congenital myopathy	GLikely pathogenic
Select item 2553037	NM_020647.4(JPH1):c.1732T>C (p.Ser578Pro)	JPH1 (S578P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682193	NM_020647.4(JPH1):c.1710C>T (p.Gly570=)	JPH1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2378944	NM_020647.4(JPH1):c.1646A>G (p.Gln549Arg)	JPH1 (Q549R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348866	NM_020647.4(JPH1):c.1630G>A (p.Gly544Arg)	JPH1 (G544R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287226	NM_020647.4(JPH1):c.1619A>T (p.Asn540Ile)	JPH1 (N540I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776357	NM_020647.4(JPH1):c.1576G>A (p.Val526Ile)	JPH1 (V526I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789520	NM_020647.4(JPH1):c.1575G>A (p.Ala525=)	JPH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2518704	NM_020647.4(JPH1):c.1550A>G (p.Lys517Arg)	JPH1 (K517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279503	NM_020647.4(JPH1):c.1543A>G (p.Met515Val)	JPH1 (M515V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266804	NM_020647.4(JPH1):c.1536G>T (p.Lys512Asn)	JPH1 (K512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033657	NM_020647.4(JPH1):c.1520C>T (p.Thr507Met)	JPH1 (T507M)	Single nucleotide variant (missense variant)	JPH1-related disorder	GBenign
Select item 3024350	NM_020647.4(JPH1):c.1510del (p.Glu504fs)	JPH1 (E504fs)	Deletion (frameshift variant)	Congenital myopathy	GPathogenic
Select item 2558675	NM_020647.4(JPH1):c.1481T>C (p.Leu494Pro)	JPH1 (L494P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287224	NM_020647.4(JPH1):c.1328C>G (p.Pro443Arg)	JPH1 (P443R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768246	NM_020647.4(JPH1):c.1322A>G (p.Lys441Arg)	JPH1 (K441R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3112459	NM_020647.4(JPH1):c.1295T>C (p.Val432Ala)	JPH1 (V432A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287225	NM_020647.4(JPH1):c.1277A>G (p.Gln426Arg)	JPH1 (Q426R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112458	NM_020647.4(JPH1):c.1207G>A (p.Asp403Asn)	JPH1 (D403N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219279	NM_020647.4(JPH1):c.1196G>A (p.Arg399His)	JPH1 (R399H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392374	NM_020647.4(JPH1):c.1165G>A (p.Asp389Asn)	JPH1 (D389N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112457	NM_020647.4(JPH1):c.1157C>T (p.Ala386Val)	JPH1 (A386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328565	NM_020647.4(JPH1):c.1000A>G (p.Asn334Asp)	JPH1 (N334D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287223	NM_020647.4(JPH1):c.958G>A (p.Val320Met)	JPH1 (V320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261427	NM_020647.4(JPH1):c.943G>A (p.Gly315Arg)	JPH1 (G315R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259527	NM_020647.4(JPH1):c.851A>T (p.Glu284Val)	JPH1 (E284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112465	NM_020647.4(JPH1):c.767C>T (p.Thr256Met)	JPH1 (T256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216741	NM_020647.4(JPH1):c.698C>G (p.Ser233Trp)	JPH1 (S233W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112464	NM_020647.4(JPH1):c.647C>A (p.Ser216Tyr)	JPH1 (S216Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218188	NM_020647.4(JPH1):c.638G>C (p.Arg213Pro)	JPH1 (R213P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2K	GBenign
Select item 1049170	NM_020647.4(JPH1):c.625G>A (p.Gly209Ser)	JPH1 (G209S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034737	NM_020647.4(JPH1):c.600C>T (p.Asp200=)	JPH1	Single nucleotide variant (synonymous variant)	JPH1-related disorder	GLikely benign
Select item 1049629	NM_020647.4(JPH1):c.491C>T (p.Ala164Val)	JPH1 (A164V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3112463	NM_020647.4(JPH1):c.473C>T (p.Pro158Leu)	JPH1 (P158L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112462	NM_020647.4(JPH1):c.377G>C (p.Gly126Ala)	JPH1 (G126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2683802	NM_020647.4(JPH1):c.373del (p.Asp125fs)	JPH1 (D125fs)	Deletion (frameshift variant)	Congenital myopathy	GLikely pathogenic
Select item 2683803	NM_020647.4(JPH1):c.354C>A (p.Tyr118Ter)	JPH1 (Y118*)	Single nucleotide variant (nonsense)	Congenital myopathy	GLikely pathogenic
Select item 770573	NM_020647.4(JPH1):c.309C>T (p.Pro103=)	JPH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3050105	NM_020647.4(JPH1):c.222G>A (p.Val74=)	JPH1	Single nucleotide variant (synonymous variant)	JPH1-related disorder	GLikely benign
Select item 2327619	NM_020647.4(JPH1):c.122C>G (p.Ser41Cys)	JPH1 (S41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520552	NM_020647.4(JPH1):c.19G>A (p.Asp7Asn)	JPH1 (D7N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527442	GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)	CRISPLD1, GDAP1 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1422858	NC_000008.10:g.(?_74888517)_(75276602_?)dup	GDAP1, JPH1 +2 more	Duplication	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 831016	NC_000008.11:g.(?_73976132)_(74367120_?)dup	GDAP1, JPH1 +2 more	Duplication	Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 +1 more	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563542	GRCh37/hg19 8q21.11-21.13(chr8:74942333-80413867)x1	IL7, ZFHX4 +8 more	Copy number loss	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253364	GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3	RPL7, XKR9 +34 more	Copy number gain	See cases	GLikely pathogenic

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Items: 78