ClinVar for Gene (Select 157697) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3090203	NM_207332.3(ERICH1):c.76G>A (p.Gly26Arg)	ERICH1 (G26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090202	NM_207332.3(ERICH1):c.730C>T (p.Arg244Trp)	ERICH1 (R244W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090201	NM_207332.3(ERICH1):c.62T>C (p.Val21Ala)	ERICH1 (V21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090200	NM_207332.3(ERICH1):c.580G>A (p.Asp194Asn)	ERICH1 (D194N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090199	NM_207332.3(ERICH1):c.532G>A (p.Gly178Ser)	ERICH1 (G178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090198	NM_207332.3(ERICH1):c.527C>A (p.Ala176Glu)	ERICH1 (A176E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090197	NM_207332.3(ERICH1):c.488G>A (p.Arg163Lys)	ERICH1 (R163K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090196	NM_207332.3(ERICH1):c.458A>G (p.Asp153Gly)	ERICH1 (D153G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090195	NM_207332.3(ERICH1):c.280G>A (p.Ala94Thr)	ERICH1 (A94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090194	NM_207332.3(ERICH1):c.173C>G (p.Thr58Ser)	ERICH1 (T58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090193	NM_207332.3(ERICH1):c.1129G>A (p.Ala377Thr)	ERICH1 (A377T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090192	NM_207332.3(ERICH1):c.1103C>T (p.Ala368Val)	ERICH1 (A368V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063018	GRCh37/hg19 8p23.3-23.2(chr8:158048-5813459)x1	ARHGEF10, CLN8 +8 more	Copy number loss	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 2685285	GRCh37/hg19 8p23.3(chr8:406041-695480)x1	ERICH1, FBXO25 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685284	GRCh37/hg19 8p23.3(chr8:158049-2190480)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685283	GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1	DEFB104A, DEFB104B +39 more	Copy number loss	not provided	GPathogenic
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2685281	GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1	DEFB1, DEFB107A +46 more	Copy number loss	not provided	GPathogenic
Select item 2685280	GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1	CLN8, CSMD1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2684516	GRCh37/hg19 8p23.3(chr8:334171-1108571)x3	ERICH1, FBXO25 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684515	GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3	AGPAT5, ANGPT2 +19 more	Copy number gain	not provided	GUncertain significance
Select item 2684514	GRCh37/hg19 8p23.3-23.2(chr8:158049-5762015)x3	ARHGEF10, CLN8 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2671622	Single allele	AGPAT5, ANGPT2 +22 more	Deletion	not provided	GPathogenic
Select item 2608481	NM_207332.3(ERICH1):c.607G>A (p.Gly203Arg)	ERICH1 (G203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606778	NM_207332.3(ERICH1):c.212C>A (p.Ala71Asp)	ERICH1 (A71D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580354	GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1	TDRP, ZNF596 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2548095	NM_207332.3(ERICH1):c.1078G>C (p.Ala360Pro)	ERICH1 (A360P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545789	NM_207332.3(ERICH1):c.1230G>A (p.Met410Ile)	ERICH1 (M410I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541203	NM_207332.3(ERICH1):c.58C>T (p.Pro20Ser)	ERICH1 (P20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538118	NM_207332.3(ERICH1):c.805G>C (p.Ala269Pro)	ERICH1 (A269P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526534	NM_207332.3(ERICH1):c.723C>G (p.Asp241Glu)	ERICH1 (D241E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520565	NM_207332.3(ERICH1):c.565A>T (p.Met189Leu)	ERICH1 (M189L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483380	NM_207332.3(ERICH1):c.93G>C (p.Gln31His)	ERICH1 (Q31H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482270	NM_207332.3(ERICH1):c.689G>C (p.Arg230Thr)	ERICH1 (R230T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468761	NM_207332.3(ERICH1):c.890A>G (p.Asp297Gly)	ERICH1 (D297G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455605	NM_207332.3(ERICH1):c.820G>A (p.Gly274Ser)	ERICH1 (G274S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396951	NM_207332.3(ERICH1):c.878C>T (p.Thr293Ile)	ERICH1 (T293I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393618	NM_207332.3(ERICH1):c.377C>T (p.Pro126Leu)	ERICH1 (P126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385773	NM_207332.3(ERICH1):c.392T>C (p.Ile131Thr)	ERICH1 (I131T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370969	NM_207332.3(ERICH1):c.227A>C (p.Glu76Ala)	ERICH1 (E76A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359191	NM_207332.3(ERICH1):c.1181C>T (p.Thr394Met)	ERICH1 (T394M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354392	NM_207332.3(ERICH1):c.103G>A (p.Val35Ile)	ERICH1 (V35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341098	NM_207332.3(ERICH1):c.200G>T (p.Arg67Leu)	ERICH1 (R67L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329187	NM_207332.3(ERICH1):c.567G>T (p.Met189Ile)	ERICH1 (M189I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316573	NM_207332.3(ERICH1):c.629G>A (p.Gly210Asp)	ERICH1 (G210D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300799	NM_207332.3(ERICH1):c.1124G>A (p.Arg375His)	ERICH1 (R375H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300026	NM_207332.3(ERICH1):c.748G>T (p.Gly250Cys)	ERICH1 (G250C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294153	NM_207332.3(ERICH1):c.1058A>G (p.Tyr353Cys)	ERICH1 (Y353C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278495	NM_207332.3(ERICH1):c.905G>T (p.Ser302Ile)	ERICH1 (S302I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265858	NM_207332.3(ERICH1):c.247C>G (p.Pro83Ala)	ERICH1 (P83A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264396	NM_207332.3(ERICH1):c.941G>T (p.Gly314Val)	ERICH1 (G314V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247677	NM_207332.3(ERICH1):c.1253C>G (p.Pro418Arg)	ERICH1 (P418R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245115	NM_207332.3(ERICH1):c.1230G>T (p.Met410Ile)	ERICH1 (M410I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232231	NM_207332.3(ERICH1):c.1004A>G (p.Glu335Gly)	ERICH1 (E335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229572	NM_207332.3(ERICH1):c.692A>C (p.Glu231Ala)	ERICH1 (E231A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228755	NM_207332.3(ERICH1):c.952G>A (p.Gly318Arg)	ERICH1 (G318R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213002	NM_207332.3(ERICH1):c.896C>T (p.Ala299Val)	ERICH1 (A299V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206503	NM_207332.3(ERICH1):c.1247C>T (p.Thr416Met)	ERICH1 (T416M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809188	GRCh37/hg19 8p23.3(chr8:423724-760393)x3	ERICH1, TDRP	Copy number gain	not provided	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1808425	GRCh37/hg19 8p23.3-23.2(chr8:158049-4608757)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807783	GRCh37/hg19 8p23.3-23.2(chr8:158049-5033424)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	ZNF705B, ZNF705D +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703666	GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413)	AGPAT5, ANGPT2 +46 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527419	GRCh37/hg19 8p23.3-23.2(chr8:158048-2707158)	ARHGEF10, CLN8 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 1330178	GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1	FBXO25, USP17L4 +22 more	Copy number loss	Single transverse palmar crease +6 more	GPathogenic
Select item 1328106	GRCh37/hg19 8p23.3-23.2(chr8:162190-4698813)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980867	GRCh37/hg19 8p23.3(chr8:158048-2081207)x1	ARHGEF10, CLN8 +7 more	Copy number loss	not provided	GPathogenic
Select item 980866	GRCh37/hg19 8p23.3(chr8:158048-1411510)x1	ERICH1, FBXO25 +2 more	Copy number loss	not provided	GPathogenic
Select item 979227	GRCh37/hg19 8p23.3-23.2(chr8:158048-3476104)x1	MYOM2, TDRP +8 more	Copy number loss	not provided	GPathogenic
Select item 979225	GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1	AGPAT5, ANGPT2 +18 more	Copy number loss	not provided	GPathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 815069	GRCh37/hg19 8p23.3(chr8:639795-1275384)x3	ERICH1	Copy number gain	not provided	GLikely benign
Select item 815068	GRCh37/hg19 8p23.3(chr8:541616-853721)x3	ERICH1	Copy number gain	not provided	GLikely benign
Select item 815067	GRCh37/hg19 8p23.3-23.2(chr8:158048-4188901)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 815066	GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1	AGPAT5, ANGPT2 +43 more	Copy number loss	not provided	GPathogenic
Select item 815065	GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3	AGPAT5, ANGPT2 +39 more	Copy number gain	not provided	GPathogenic
Select item 815064	GRCh37/hg19 8p23.3(chr8:158048-704967)x3	ERICH1, ZNF596 +2 more	Copy number gain	not provided	GLikely benign
Select item 688616	GRCh37/hg19 8p23.3(chr8:627180-768460)x1	ERICH1	Copy number loss	not provided	GUncertain significance
Select item 688520	GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1	AGPAT5, ANGPT2 +15 more	Copy number loss	not provided	GPathogenic
Select item 688425	GRCh37/hg19 8p23.3-23.1(chr8:158048-6219809)x1	ARHGEF10, CLN8 +8 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687785	GRCh37/hg19 8p23.3(chr8:541616-723786)x3	ERICH1	Copy number gain	not provided	GUncertain significance
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	AGPAT5, ANGPT2 +75 more	Copy number loss	not provided	GPathogenic
Select item 686765	GRCh37/hg19 8p23.3(chr8:504901-983722)x3	ERICH1	Copy number gain	not provided	GUncertain significance
Select item 686653	GRCh37/hg19 8p23.3(chr8:158048-1737931)x1	CLN8, DLGAP2 +4 more	Copy number loss	not provided	GPathogenic
Select item 686558	GRCh37/hg19 8p23.3(chr8:635033-859851)x1	ERICH1	Copy number loss	not provided	GUncertain significance
Select item 686293	GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1	AGPAT5, ANGPT2 +19 more	Copy number loss	not provided	GPathogenic

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