28602[HGNC] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 60121	GRCh38/hg38 3q25.1(chr3:150462960-150915627)x1	EIF2A, ERICH6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 3090252	NM_152394.5(ERICH6):c.1976T>C (p.Ile659Thr)	ERICH6 (I659T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276371	NM_152394.5(ERICH6):c.1889A>G (p.Tyr630Cys)	ERICH6 (Y630C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513001	NM_152394.5(ERICH6):c.1813C>T (p.Arg605Cys)	ERICH6 (R459C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090251	NM_152394.5(ERICH6):c.1800A>C (p.Leu600Phe)	ERICH6 (L454F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600773	NM_152394.5(ERICH6):c.1763A>T (p.Tyr588Phe)	ERICH6 (Y442F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090250	NM_152394.5(ERICH6):c.1741G>A (p.Glu581Lys)	ERICH6 (E435K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480577	NM_152394.5(ERICH6):c.1724T>G (p.Val575Gly)	ERICH6 (V429G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560075	NM_152394.5(ERICH6):c.1687A>G (p.Met563Val)	ERICH6 (M563V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369908	NM_152394.5(ERICH6):c.1646G>A (p.Arg549His)	ERICH6 (R403H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276368	NM_152394.5(ERICH6):c.1630C>G (p.Arg544Gly)	ERICH6 (R398G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262336	NM_152394.5(ERICH6):c.1565A>G (p.Asn522Ser)	ERICH6 (N376S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090248	NM_152394.5(ERICH6):c.1537C>G (p.Gln513Glu)	ERICH6 (Q513E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276369	NM_152394.5(ERICH6):c.1523G>A (p.Gly508Asp)	ERICH6 (G508D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276374	NM_152394.5(ERICH6):c.1507A>G (p.Ile503Val)	ERICH6 (I503V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276370	NM_152394.5(ERICH6):c.1474T>G (p.Cys492Gly)	ERICH6 (C346G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090247	NM_152394.5(ERICH6):c.1469G>C (p.Ser490Thr)	ERICH6 (S344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276372	NM_152394.5(ERICH6):c.1435G>T (p.Ala479Ser)	ERICH6 (A479S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090246	NM_152394.5(ERICH6):c.1373G>A (p.Arg458Gln)	ERICH6 (R312Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090245	NM_152394.5(ERICH6):c.1256A>C (p.Lys419Thr)	ERICH6 (K273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609912	NM_152394.5(ERICH6):c.1209C>G (p.Asn403Lys)	ERICH6 (N257K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392719	NM_152394.5(ERICH6):c.1120C>T (p.Arg374Cys)	ERICH6 (R374C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324140	NM_152394.5(ERICH6):c.1103C>T (p.Ser368Phe)	ERICH6 (S368F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090244	NM_152394.5(ERICH6):c.1004T>C (p.Val335Ala)	ERICH6 (V189A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090259	NM_152394.5(ERICH6):c.976G>C (p.Asp326His)	ERICH6 (D180H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406739	NM_152394.5(ERICH6):c.974T>C (p.Ile325Thr)	ERICH6 (I325T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337870	NM_152394.5(ERICH6):c.949C>T (p.Pro317Ser)	ERICH6 (P171S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508791	NM_152394.5(ERICH6):c.829G>A (p.Asp277Asn)	ERICH6 (D131N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265910	NM_152394.5(ERICH6):c.713T>C (p.Leu238Ser)	ERICH6 (L238S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090258	NM_152394.5(ERICH6):c.622A>T (p.Ile208Phe)	ERICH6 (I62F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475229	NM_152394.5(ERICH6):c.590G>A (p.Cys197Tyr)	ERICH6 (C197Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090257	NM_152394.5(ERICH6):c.586G>C (p.Glu196Gln)	ERICH6 (E50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2248056	NM_152394.5(ERICH6):c.500C>T (p.Ser167Leu)	ERICH6 (S21L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090256	NM_152394.5(ERICH6):c.457G>A (p.Asp153Asn)	ERICH6 (D153N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090255	NM_152394.5(ERICH6):c.449T>A (p.Met150Lys)	ERICH6 (M150K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464328	NM_152394.5(ERICH6):c.341A>G (p.Gln114Arg)	ERICH6 (Q114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273808	NM_152394.5(ERICH6):c.308G>C (p.Ser103Thr)	ERICH6, ERICH6-AS1 (S103T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090254	NM_152394.5(ERICH6):c.264C>A (p.Asp88Glu)	ERICH6, ERICH6-AS1 (D88E)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3090253	NM_152394.5(ERICH6):c.229T>G (p.Tyr77Asp)	ERICH6, ERICH6-AS1 (Y77D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276373	NM_152394.5(ERICH6):c.176A>T (p.Glu59Val)	ERICH6, ERICH6-AS1 (E59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257586	NM_152394.5(ERICH6):c.96A>G (p.Glu32=)	ERICH6, ERICH6-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2288406	NM_152394.5(ERICH6):c.83A>T (p.Glu28Val)	ERICH6, ERICH6-AS1 +1 more (E28V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255627	NM_152394.5(ERICH6):c.37C>A (p.Pro13Thr)	ERICH6, ERICH6-AS1 +1 more (P13T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2250134	NM_152394.5(ERICH6):c.19C>T (p.Pro7Ser)	ERICH6, ERICH6-AS1 (P7S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	CP, EIF2A +28 more	Deletion	Polyglucosan body myopathy type 2 +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 442527	GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	AADAC, AADACL2 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 61