ClinVar for Gene (Select 55754) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327067	NM_018247.4(TMEM30A):c.62G>C (p.Gly21Ala)	TMEM30A (G21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246043	NC_000006.11:g.(?_75827078)_(76640888_?)dup	COL12A1, COX7A2 +5 more	Duplication	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 3179422	NM_018247.4(TMEM30A):c.520A>G (p.Ile174Val)	TMEM30A (I138V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179421	NM_018247.4(TMEM30A):c.287C>T (p.Ser96Phe)	TMEM30A (S96F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611086	NM_018247.4(TMEM30A):c.442A>G (p.Ser148Gly)	TMEM30A (S112G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476807	NM_018247.4(TMEM30A):c.679T>C (p.Phe227Leu)	TMEM30A (F191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291453	NM_018247.4(TMEM30A):c.62G>A (p.Gly21Asp)	TMEM30A (G21D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283017	NM_018247.4(TMEM30A):c.59G>C (p.Gly20Ala)	TMEM30A (G20A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249977	NM_018247.4(TMEM30A):c.482G>A (p.Arg161Gln)	TMEM30A (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1527252	GRCh37/hg19 6q13-14.1(chr6:75889207-76522602)	COL12A1, COX7A2 +4 more	Copy number gain	not specified	GUncertain significance
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 980211	GRCh37/hg19 6q13-14.1(chr6:74226559-80208037)x1	IRAK1BP1, CD109 +13 more	Copy number loss	not provided	GPathogenic
Select item 814830	GRCh37/hg19 6q13-14.1(chr6:75899299-76343518)x3	TMEM30A, SENP6 +3 more	Copy number gain	not provided	GUncertain significance
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
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 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22