GPR78[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	NELFA, NICOL1 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	AFAP1, AFAP1-AS1 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992002, LOC129992003 +597 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	ABLIM2, ACOX3 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	ABLIM2, ACOX3 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	ABLIM2, ACOX3 +657 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	ABLIM2, ACOX3 +623 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	ABLIM2, ACOX3 +618 more	Copy number gain	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	ABLIM2, ACOX3 +659 more	Copy number loss	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 153003	GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1	ABLIM2, ACOX3 +365 more	Copy number loss	See cases	GPathogenic
Select item 626310	NC_000004.12:g.8398067_17505522inv	ACOX3, BOD1L1 +193 more	Inversion	Dihydropteridine reductase deficiency	GPathogenic
Select item 148843	GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3	ACOX3, CPZ +54 more	Copy number gain	See cases	GLikely benign
Select item 717205	NM_080819.5(GPR78):c.6C>T (p.Gly2=)	GPR78	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2314803	NM_080819.5(GPR78):c.7C>T (p.Pro3Ser)	GPR78 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394880	NM_080819.5(GPR78):c.10G>T (p.Gly4Cys)	GPR78 (G4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225099	NM_080819.5(GPR78):c.35T>C (p.Leu12Pro)	GPR78 (L12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353993	NM_080819.5(GPR78):c.52G>A (p.Val18Met)	GPR78 (V18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320476	NM_080819.5(GPR78):c.115C>G (p.Arg39Gly)	GPR78 (R39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334765	NM_080819.5(GPR78):c.116G>A (p.Arg39Gln)	GPR78 (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729411	NM_080819.5(GPR78):c.148C>T (p.Leu50=)	GPR78	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308746	NM_080819.5(GPR78):c.152G>A (p.Gly51Asp)	GPR78 (G51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101854	NM_080819.5(GPR78):c.154C>T (p.His52Tyr)	GPR78 (H52Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282443	NM_080819.5(GPR78):c.163C>A (p.Leu55Met)	GPR78 (L55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465997	NM_080819.5(GPR78):c.177C>G (p.Asp59Glu)	GPR78 (D59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101855	NM_080819.5(GPR78):c.181C>T (p.Pro61Ser)	GPR78 (P61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282446	NM_080819.5(GPR78):c.186C>G (p.Phe62Leu)	GPR78 (F62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620779	NM_080819.5(GPR78):c.204G>A (p.Met68Ile)	GPR78 (M68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484212	NM_080819.5(GPR78):c.226C>T (p.Pro76Ser)	GPR78 (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382661	NM_080819.5(GPR78):c.277G>T (p.Ala93Ser)	GPR78 (A93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615959	NM_080819.5(GPR78):c.293C>T (p.Ala98Val)	GPR78 (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309005	NM_080819.5(GPR78):c.304G>A (p.Ala102Thr)	GPR78 (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767949	NM_080819.5(GPR78):c.324G>A (p.Val108=)	GPR78	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2271900	NM_080819.5(GPR78):c.358C>T (p.Pro120Ser)	GPR78 (P120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381063	NM_080819.5(GPR78):c.419C>G (p.Ala140Gly)	GPR78 (A140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517760	NM_080819.5(GPR78):c.427G>T (p.Gly143Cys)	GPR78 (G143C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282445	NM_080819.5(GPR78):c.459C>G (p.Phe153Leu)	GPR78 (F153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101857	NM_080819.5(GPR78):c.470C>T (p.Ser157Leu)	GPR78 (S157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248150	NM_080819.5(GPR78):c.476G>A (p.Arg159His)	GPR78 (R159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282560	NM_080819.5(GPR78):c.482C>G (p.Pro161Arg)	GPR78 (P161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347913	NM_080819.5(GPR78):c.526C>T (p.Leu176Phe)	GPR78 (L176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730508	NM_080819.5(GPR78):c.528C>T (p.Leu176=)	GPR78	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2494661	NM_080819.5(GPR78):c.531T>G (p.His177Gln)	GPR78 (H177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101859	NM_080819.5(GPR78):c.608G>A (p.Cys203Tyr)	GPR78 (C203Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458062	NM_080819.5(GPR78):c.633G>A (p.Met211Ile)	GPR78 (M211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463108	NM_080819.5(GPR78):c.665C>T (p.Pro222Leu)	GPR78 (P222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389568	NM_080819.5(GPR78):c.673C>T (p.Arg225Trp)	GPR78 (R225W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245271	NM_080819.5(GPR78):c.679C>T (p.Arg227Cys)	GPR78 (R227C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215548	NM_080819.5(GPR78):c.695A>G (p.Gln232Arg)	GPR78 (Q232R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101860	NM_080819.5(GPR78):c.707G>A (p.Arg236His)	GPR78 (R236H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282444	NM_080819.5(GPR78):c.713G>A (p.Arg238His)	GPR78 (R238H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101861	NM_080819.5(GPR78):c.731G>T (p.Gly244Val)	GPR78 (G244V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263133	NM_080819.5(GPR78):c.737C>G (p.Ala246Gly)	GPR78 (A246G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101862	NM_080819.5(GPR78):c.758G>T (p.Cys253Phe)	GPR78 (C253F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101863	NM_080819.5(GPR78):c.779C>A (p.Thr260Asn)	GPR78 (T260N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461107	NM_080819.5(GPR78):c.788C>T (p.Ala263Val)	GPR78 (A263V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351047	NM_080819.5(GPR78):c.793C>T (p.Leu265Phe)	GPR78 (L265F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282442	NM_080819.5(GPR78):c.796G>A (p.Val266Met)	GPR78 (V266M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101864	NM_080819.5(GPR78):c.805G>A (p.Val269Ile)	GPR78 (V269I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468819	NM_080819.5(GPR78):c.811G>A (p.Val271Met)	GPR78 (V271M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101865	NM_080819.5(GPR78):c.854G>A (p.Ser285Asn)	GPR78 (S285N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342495	NM_080819.5(GPR78):c.904C>T (p.Arg302Cys)	GPR78 (R302C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282447	NM_080819.5(GPR78):c.942G>T (p.Lys314Asn)	GPR78 (K314N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101866	NM_080819.5(GPR78):c.991G>A (p.Gly331Ser)	GPR78 (G331S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2370254	NM_080819.5(GPR78):c.1004A>G (p.Gln335Arg)	GPR78 (Q335R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	CYTL1, DEFB131A +117 more	Copy number loss	not provided	GPathogenic
Select item 2685958	GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3	ABLIM2, ACOX3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685106	GRCh37/hg19 4p16.1(chr4:8521116-8609785)x1	CPZ, GPR78	Copy number loss	not provided	GUncertain significance
Select item 2685104	GRCh37/hg19 4p16.1(chr4:8453874-8609785)x1	CPZ, GPR78 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685103	GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1	ACOX3, CPZ +2 more	Copy number loss	not provided	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	ABLIM2, ACOX3 +132 more	Copy number loss	not provided	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1808808	GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3	ACOX3, CPZ +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic

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