ERICH3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 154278	GRCh38/hg38 1p31.1(chr1:74261660-75056208)x3	CRYZ, ERICH3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 152689	GRCh38/hg38 1p31.1(chr1:74320173-74823743)x3	CRYZ, ERICH3 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2268847	NM_001002912.5(ERICH3):c.4562C>A (p.Ala1521Glu)	ERICH3 (A1521E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338731	NM_001002912.5(ERICH3):c.4520G>A (p.Arg1507Gln)	ERICH3 (R1507Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090231	NM_001002912.5(ERICH3):c.4433T>C (p.Leu1478Ser)	ERICH3 (L1478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360715	NM_001002912.5(ERICH3):c.4339G>A (p.Glu1447Lys)	ERICH3 (E1447K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522739	NM_001002912.5(ERICH3):c.4306G>T (p.Ala1436Ser)	ERICH3 (A1436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276359	NM_001002912.5(ERICH3):c.4106A>G (p.Lys1369Arg)	ERICH3 (K1369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589422	NM_001002912.5(ERICH3):c.4060G>C (p.Ala1354Pro)	ERICH3 (A1354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280914	NM_001002912.5(ERICH3):c.4060G>T (p.Ala1354Ser)	ERICH3 (A1354S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254666	NM_001002912.5(ERICH3):c.4016C>T (p.Ala1339Val)	ERICH3 (A1339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276355	NM_001002912.5(ERICH3):c.3907A>C (p.Thr1303Pro)	ERICH3 (T1303P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090230	NM_001002912.5(ERICH3):c.3754G>T (p.Ala1252Ser)	ERICH3 (A1252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331656	NM_001002912.5(ERICH3):c.3652G>A (p.Ala1218Thr)	ERICH3 (A1218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244004	NM_001002912.5(ERICH3):c.3643G>T (p.Ala1215Ser)	ERICH3 (A1215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591078	NM_001002912.5(ERICH3):c.3600G>T (p.Glu1200Asp)	ERICH3 (E1200D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090228	NM_001002912.5(ERICH3):c.3527A>G (p.Glu1176Gly)	ERICH3 (E1176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519368	NM_001002912.5(ERICH3):c.3474A>C (p.Glu1158Asp)	ERICH3 (E1158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227330	NM_001002912.5(ERICH3):c.3433G>C (p.Gly1145Arg)	ERICH3 (G1145R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276358	NM_001002912.5(ERICH3):c.3373G>A (p.Asp1125Asn)	ERICH3 (D1125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276354	NM_001002912.5(ERICH3):c.3358A>G (p.Asn1120Asp)	ERICH3 (N1120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394162	NM_001002912.5(ERICH3):c.3344C>G (p.Thr1115Arg)	ERICH3 (T1115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090227	NM_001002912.5(ERICH3):c.3330A>T (p.Arg1110Ser)	ERICH3 (R1110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090226	NM_001002912.5(ERICH3):c.3329G>T (p.Arg1110Ile)	ERICH3 (R1110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623913	NM_001002912.5(ERICH3):c.3326T>C (p.Val1109Ala)	ERICH3 (V1109A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474264	NM_001002912.5(ERICH3):c.3307G>A (p.Gly1103Arg)	ERICH3 (G1103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276351	NM_001002912.5(ERICH3):c.3299C>T (p.Ala1100Val)	ERICH3 (A1100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242589	NM_001002912.5(ERICH3):c.3293T>G (p.Leu1098Arg)	ERICH3 (L1098R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090224	NM_001002912.5(ERICH3):c.3278A>G (p.Lys1093Arg)	ERICH3 (K1093R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316812	NM_001002912.5(ERICH3):c.3248C>A (p.Ala1083Glu)	ERICH3 (A1083E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090223	NM_001002912.5(ERICH3):c.3246G>T (p.Arg1082Ser)	ERICH3 (R1082S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090222	NM_001002912.5(ERICH3):c.3205T>A (p.Ser1069Thr)	ERICH3 (S1069T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090221	NM_001002912.5(ERICH3):c.3194G>A (p.Arg1065Lys)	ERICH3 (R1065K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476970	NM_001002912.5(ERICH3):c.3175G>A (p.Glu1059Lys)	ERICH3 (E1059K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393839	NM_001002912.5(ERICH3):c.3084T>A (p.Asp1028Glu)	ERICH3 (D1028E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327512	NM_001002912.5(ERICH3):c.3079G>C (p.Glu1027Gln)	ERICH3 (E1027Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463988	NM_001002912.5(ERICH3):c.3065C>G (p.Ala1022Gly)	ERICH3 (A1022G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350396	NM_001002912.5(ERICH3):c.3051C>A (p.Ser1017Arg)	ERICH3 (S1017R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090220	NM_001002912.5(ERICH3):c.3031G>A (p.Gly1011Ser)	ERICH3 (G1011S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458379	NM_001002912.5(ERICH3):c.2938C>G (p.Pro980Ala)	ERICH3 (P980A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476265	NM_001002912.5(ERICH3):c.2920A>G (p.Ile974Val)	ERICH3 (I974V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380579	NM_001002912.5(ERICH3):c.2918C>T (p.Ala973Val)	ERICH3 (A973V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481768	NM_001002912.5(ERICH3):c.2897G>C (p.Arg966Thr)	ERICH3 (R966T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090219	NM_001002912.5(ERICH3):c.2830G>A (p.Glu944Lys)	ERICH3 (E944K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475659	NM_001002912.5(ERICH3):c.2812G>C (p.Ala938Pro)	ERICH3 (A938P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258402	NM_001002912.5(ERICH3):c.2801A>T (p.Glu934Val)	ERICH3 (E934V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374456	NM_001002912.5(ERICH3):c.2786A>G (p.Glu929Gly)	ERICH3 (E929G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311671	NM_001002912.5(ERICH3):c.2711T>C (p.Leu904Pro)	ERICH3 (L904P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520707	NM_001002912.5(ERICH3):c.2696T>C (p.Leu899Ser)	ERICH3 (L899S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090218	NM_001002912.5(ERICH3):c.2572C>T (p.Pro858Ser)	ERICH3 (P858S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090217	NM_001002912.5(ERICH3):c.2563G>A (p.Gly855Arg)	ERICH3 (G855R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404714	NM_001002912.5(ERICH3):c.2550G>T (p.Arg850Ser)	ERICH3 (R850S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353536	NM_001002912.5(ERICH3):c.2467G>A (p.Glu823Lys)	ERICH3 (E823K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270311	NM_001002912.5(ERICH3):c.2432C>T (p.Ala811Val)	ERICH3 (A811V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090216	NM_001002912.5(ERICH3):c.2365G>A (p.Val789Ile)	ERICH3 (V789I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551226	NM_001002912.5(ERICH3):c.2364A>G (p.Ile788Met)	ERICH3 (I788M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090215	NM_001002912.5(ERICH3):c.2353G>T (p.Asp785Tyr)	ERICH3 (D785Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090214	NM_001002912.5(ERICH3):c.2249C>T (p.Thr750Ile)	ERICH3 (T750I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090213	NM_001002912.5(ERICH3):c.2110C>T (p.Leu704Phe)	ERICH3, ERICH3-AS1 (L704F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310682	NM_001002912.5(ERICH3):c.2040T>G (p.Ile680Met)	ERICH3, ERICH3-AS1 (I680M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090212	NM_001002912.5(ERICH3):c.2015G>A (p.Gly672Glu)	ERICH3, ERICH3-AS1 (G672E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2341760	NM_001002912.5(ERICH3):c.1939C>G (p.Gln647Glu)	ERICH3, ERICH3-AS1 (Q647E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3090210	NM_001002912.5(ERICH3):c.1909G>A (p.Glu637Lys)	ERICH3, ERICH3-AS1 (E637K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2480234	NM_001002912.5(ERICH3):c.1824C>A (p.Asp608Glu)	ERICH3, ERICH3-AS1 (D608E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481987	NM_001002912.5(ERICH3):c.1711G>A (p.Glu571Lys)	ERICH3, ERICH3-AS1 (E571K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276357	NM_001002912.5(ERICH3):c.1666G>T (p.Asp556Tyr)	ERICH3, ERICH3-AS1 (D556Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090208	NM_001002912.5(ERICH3):c.1663C>T (p.Arg555Cys)	ERICH3, ERICH3-AS1 (R555C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379151	NM_001002912.5(ERICH3):c.1639T>C (p.Ser547Pro)	ERICH3, ERICH3-AS1 (S547P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326241	NM_001002912.5(ERICH3):c.1536A>C (p.Lys512Asn)	ERICH3, ERICH3-AS1 (K512N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638881	NM_001002912.5(ERICH3):c.1489+8A>G	ERICH3, ERICH3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2495718	NM_001002912.5(ERICH3):c.1253C>T (p.Thr418Ile)	ERICH3, ERICH3-AS1 (T418I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235771	NM_001002912.5(ERICH3):c.1237A>G (p.Arg413Gly)	ERICH3, ERICH3-AS1 (R413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638882	NM_001002912.5(ERICH3):c.1220C>T (p.Pro407Leu)	ERICH3, ERICH3-AS1 (P407L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3090207	NM_001002912.5(ERICH3):c.1219C>T (p.Pro407Ser)	ERICH3, ERICH3-AS1 (P407S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303488	NM_001002912.5(ERICH3):c.1217A>C (p.Lys406Thr)	ERICH3, ERICH3-AS1 (K406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213751	NM_001002912.5(ERICH3):c.1204G>C (p.Gly402Arg)	ERICH3, ERICH3-AS1 (G402R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090206	NM_001002912.5(ERICH3):c.1201A>C (p.Met401Leu)	ERICH3, ERICH3-AS1 (M401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276353	NM_001002912.5(ERICH3):c.1178C>T (p.Pro393Leu)	ERICH3, ERICH3-AS1 (P393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090205	NM_001002912.5(ERICH3):c.1111C>T (p.Arg371Trp)	ERICH3, ERICH3-AS1 (R371W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605672	NM_001002912.5(ERICH3):c.935A>C (p.Lys312Thr)	ERICH3, ERICH3-AS1 (K312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353843	NM_001002912.5(ERICH3):c.922C>T (p.Arg308Trp)	ERICH3, ERICH3-AS1 (R308W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090235	NM_001002912.5(ERICH3):c.833T>G (p.Ile278Ser)	ERICH3, ERICH3-AS1 (I278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090234	NM_001002912.5(ERICH3):c.833T>C (p.Ile278Thr)	ERICH3, ERICH3-AS1 (I278T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090233	NM_001002912.5(ERICH3):c.815C>A (p.Thr272Lys)	ERICH3 (T272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276356	NM_001002912.5(ERICH3):c.563A>C (p.Lys188Thr)	ERICH3 (K188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520068	NM_001002912.5(ERICH3):c.502C>A (p.Pro168Thr)	ERICH3 (P168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276352	NM_001002912.5(ERICH3):c.494G>A (p.Arg165Gln)	ERICH3 (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090232	NM_001002912.5(ERICH3):c.485C>A (p.Pro162His)	ERICH3 (P162H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385054	NM_001002912.5(ERICH3):c.376G>A (p.Val126Ile)	ERICH3 (V126I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090229	NM_001002912.5(ERICH3):c.358C>G (p.Leu120Val)	ERICH3 (L120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328940	NM_001002912.5(ERICH3):c.280A>G (p.Thr94Ala)	ERICH3 (T94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302740	NM_001002912.5(ERICH3):c.233T>C (p.Leu78Pro)	ERICH3 (L78P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090211	NM_001002912.5(ERICH3):c.197G>A (p.Arg66Gln)	ERICH3 (R66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090209	NM_001002912.5(ERICH3):c.178G>T (p.Asp60Tyr)	ERICH3 (D60Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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