JPH3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 145626	GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1	C16orf95, C16orf95-DT +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 151023	GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1	C16orf95, C16orf95-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 146290	GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1	C16orf95, C16orf95-DT +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 146319	GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1	C16orf95, C16orf95-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 155590	GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1	C16orf95, C16orf95-DT +33 more	Copy number loss	See cases	GUncertain significance
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 154655	GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1	FBXO31, JPH3 +29 more	Copy number loss	See cases	GUncertain significance
Select item 150827	GRCh38/hg38 16q24.2(chr16:87597944-87682294)x1	JPH3, LOC109029536 +3 more	Copy number loss	See cases	GUncertain significance
Select item 3112499	NM_020655.4(JPH3):c.92C>T (p.Thr31Ile)	JPH3 (T31I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112469	NM_020655.4(JPH3):c.104G>A (p.Gly35Asp)	JPH3 (G35D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 736127	NM_020655.4(JPH3):c.120C>A (p.Thr40=)	JPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2223335	NM_020655.4(JPH3):c.148C>G (p.Leu50Val)	JPH3 (L50V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206650	NM_020655.4(JPH3):c.154G>A (p.Val52Ile)	JPH3 (V52I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204371	NM_020655.4(JPH3):c.217A>G (p.Ile73Val)	JPH3 (I73V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762071	NM_020655.4(JPH3):c.267C>T (p.His89=)	JPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046536	NM_020655.4(JPH3):c.309C>T (p.Asn103=)	JPH3	Single nucleotide variant (synonymous variant)	JPH3-related disorder	GLikely benign
Select item 2429071	NM_020655.4(JPH3):c.311G>A (p.Gly104Glu)	JPH3 (G104E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3112489	NM_020655.4(JPH3):c.329C>T (p.Thr110Ile)	JPH3 (T110I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3112490	NM_020655.4(JPH3):c.379G>A (p.Gly127Arg)	JPH3 (G127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030428	NM_020655.4(JPH3):c.382+635C>T	JPH3	Single nucleotide variant (3 prime UTR variant +1 more)	JPH3-related disorder	GLikely benign
Select item 5119	NM_001271604.4(JPH3):c.431CWG[41_?]	JPH3, LOC109029536	Microsatellite	Huntington disease-like 2	GPathogenic
Select item 747988	NM_020655.4(JPH3):c.396C>A (p.Gly132=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 786946	NM_020655.4(JPH3):c.405C>T (p.Val135=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1284993	NM_020655.4(JPH3):c.406G>A (p.Gly136Ser)	JPH3 (G136S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3035045	NM_020655.4(JPH3):c.426C>T (p.Tyr142=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 2261876	NM_020655.4(JPH3):c.427G>T (p.Gly143Cys)	JPH3 (G143C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063739	NM_020655.4(JPH3):c.434G>A (p.Arg145Gln)	JPH3 (R145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055226	NM_020655.4(JPH3):c.460G>C (p.Ala154Pro)	JPH3 (A154P)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 2274656	NM_020655.4(JPH3):c.460G>A (p.Ala154Thr)	JPH3 (A154T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112491	NM_020655.4(JPH3):c.502C>T (p.Arg168Cys)	JPH3 (R168C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733127	NM_020655.4(JPH3):c.507C>T (p.Ser169=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2378470	NM_020655.4(JPH3):c.524C>T (p.Thr175Met)	JPH3 (T175M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 778619	NM_020655.4(JPH3):c.525G>A (p.Thr175=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3043900	NM_020655.4(JPH3):c.531G>A (p.Leu177=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 744886	NM_020655.4(JPH3):c.537C>T (p.Pro179=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2646958	NM_020655.4(JPH3):c.540C>G (p.Asp180Glu)	JPH3 (D180E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2384555	NM_020655.4(JPH3):c.548C>T (p.Pro183Leu)	JPH3 (P183L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474364	NM_020655.4(JPH3):c.551C>T (p.Ala184Val)	JPH3 (A184V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727539	NM_020655.4(JPH3):c.557C>A (p.Ala186Asp)	JPH3 (A186D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3047367	NM_020655.4(JPH3):c.570C>T (p.Ala190=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3112492	NM_020655.4(JPH3):c.571G>A (p.Val191Met)	JPH3 (V191M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211121	NM_020655.4(JPH3):c.578G>A (p.Arg193His)	JPH3 (R193H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2646959	NM_020655.4(JPH3):c.579C>T (p.Arg193=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 787986	NM_020655.4(JPH3):c.595G>A (p.Val199Met)	JPH3 (V199M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 779972	NM_020655.4(JPH3):c.612C>T (p.Ser204=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder +1 more	GBenign/Likely benign
Select item 3112493	NM_020655.4(JPH3):c.625A>G (p.Ser209Gly)	JPH3 (S209G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 779279	NM_020655.4(JPH3):c.626G>C (p.Ser209Thr)	JPH3 (S209T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 727660	NM_020655.4(JPH3):c.654G>A (p.Ser218=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3112494	NM_020655.4(JPH3):c.677G>A (p.Arg226His)	JPH3 (R226H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059953	NM_020655.4(JPH3):c.684G>A (p.Ser228=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 710403	NM_020655.4(JPH3):c.738C>T (p.Ser246=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3112495	NM_020655.4(JPH3):c.743C>T (p.Ala248Val)	JPH3 (A248V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717750	NM_020655.4(JPH3):c.756C>T (p.Thr252=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2359300	NM_020655.4(JPH3):c.757G>A (p.Val253Ile)	JPH3 (V253I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262624	NM_020655.4(JPH3):c.761G>C (p.Ser254Thr)	JPH3 (S254T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234047	NM_020655.4(JPH3):c.767C>T (p.Thr256Met)	JPH3 (T256M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059867	NM_020655.4(JPH3):c.768G>A (p.Thr256=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3112496	NM_020655.4(JPH3):c.796C>G (p.Leu266Val)	JPH3 (L266V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708195	NM_020655.4(JPH3):c.813C>T (p.Ala271=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3037167	NM_020655.4(JPH3):c.821C>T (p.Ala274Val)	JPH3 (A274V)	Single nucleotide variant (missense variant +1 more)	JPH3-related disorder	GLikely benign
Select item 2215824	NM_020655.4(JPH3):c.826A>G (p.Ile276Val)	JPH3 (I276V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052698	NM_020655.4(JPH3):c.840C>T (p.Ile280=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GLikely benign
Select item 3112497	NM_020655.4(JPH3):c.841G>T (p.Asp281Tyr)	JPH3 (D281Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786836	NM_020655.4(JPH3):c.843C>T (p.Asp281=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2646960	NM_020655.4(JPH3):c.855C>T (p.Thr285=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 734381	NM_020655.4(JPH3):c.870C>T (p.Gly290=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 710236	NM_020655.4(JPH3):c.897C>T (p.Gly299=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646961	NM_020655.4(JPH3):c.903C>A (p.Gly301=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 778647	NM_020655.4(JPH3):c.921C>T (p.Asp307=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725073	NM_020655.4(JPH3):c.933C>T (p.Tyr311=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762826	NM_020655.4(JPH3):c.939C>T (p.Gly313=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2241622	NM_020655.4(JPH3):c.940G>A (p.Glu314Lys)	JPH3 (E314K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3112500	NM_020655.4(JPH3):c.950G>A (p.Ser317Asn)	JPH3 (S317N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716816	NM_020655.4(JPH3):c.955C>A (p.Arg319=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 548586	NM_020655.4(JPH3):c.955C>T (p.Arg319Trp)	JPH3 (R319W)	Single nucleotide variant (missense variant +1 more)	Huntington disease-like 2 +1 more	GUncertain significance
Select item 3112501	NM_020655.4(JPH3):c.959G>A (p.Arg320His)	JPH3 (R320H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057021	NM_020655.4(JPH3):c.960C>T (p.Arg320=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	JPH3-related disorder	GBenign
Select item 3112502	NM_020655.4(JPH3):c.986C>T (p.Pro329Leu)	JPH3 (P329L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 747082	NM_020655.4(JPH3):c.990C>T (p.Asp330=)	JPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2306161	NM_020655.4(JPH3):c.1018C>G (p.Gln340Glu)	JPH3 (Q340E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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