3189[HGNC] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 57394	GRCh38/hg38 6q13(chr6:73479920-74931870)x1	CD109, CD109-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 138276	NM_012123.4(MTO1):c.1785A>G (p.Gln595=)	EEF1A1, MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more	GBenign/Likely benign
Select item 776132	NM_001402.6(EEF1A1):c.1050A>G (p.Pro350=)	EEF1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3087239	NM_001402.6(EEF1A1):c.991A>C (p.Asn331His)	EEF1A1 (N331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087238	NM_001402.6(EEF1A1):c.962G>A (p.Arg321His)	EEF1A1 (R321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787304	NM_001402.6(EEF1A1):c.915G>A (p.Gly305=)	EEF1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734996	NM_001402.6(EEF1A1):c.772+9G>A	EEF1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3087237	NM_001402.6(EEF1A1):c.703A>G (p.Ile235Val)	EEF1A1 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274537	NM_001402.6(EEF1A1):c.287G>C (p.Arg96Thr)	EEF1A1 (R96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672187	NM_001402.6(EEF1A1):c.93C>G (p.Cys31Trp)	EEF1A1 (C31W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684447	GRCh37/hg19 6q13(chr6:73879839-74610369)x3	CD109, CGAS +10 more	Copy number gain	not provided	GUncertain significance
Select item 2425814	NC_000006.11:g.(?_74189435)_(74363609_?)dup	EEF1A1, MTO1 +1 more	Duplication	Salla disease	GUncertain significance
Select item 1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2, CD109 +17 more	Copy number loss	Autism	GPathogenic
Select item 1703664	GRCh37/hg19 6q12-14.1(chr6:64954687-79581678)	ADGRB3, B3GAT2 +32 more	Copy number loss	Chromosome 6q11-q14 deletion syndrome	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1340605	GRCh37/hg19 6q13-14.1(chr6:70165296-79920769)x1	B3GAT2, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 1071718	NC_000006.11:g.(?_72596727)_(74363609_?)del	EEF1A1, KCNQ5 +10 more	Deletion	Salla disease	GPathogenic
Select item 980211	GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1	IRAK1BP1, CD109 +13 more	Copy number loss	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 24