ClinVar for Gene (Select 1346) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076482	NM_001864.4(COX7A1):c.229C>T (p.Pro77Ser)	COX7A1 (P77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076481	NM_001864.4(COX7A1):c.103G>A (p.Glu35Lys)	COX7A1 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062377	GRCh37/hg19 19q13.12(chr19:36451071-36752221)x3	ALKBH6, CAPNS1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 2684891	GRCh37/hg19 19q13.12(chr19:36312941-36751702)x3	ALKBH6, APLP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2384310	NM_001864.4(COX7A1):c.132G>T (p.Lys44Asn)	COX7A1 (K44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347684	NM_001864.4(COX7A1):c.161G>A (p.Arg54Gln)	COX7A1 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336612	NM_001864.4(COX7A1):c.14G>T (p.Arg5Leu)	COX7A1 (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321314	NM_001864.4(COX7A1):c.52G>T (p.Ala18Ser)	COX7A1 (A18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303163	NM_001864.4(COX7A1):c.82G>A (p.Glu28Lys)	COX7A1 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685424	GRCh37/hg19 19q13.12(chr19:36570287-36655341)x3	CAPNS1, COX7A1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 395045	GRCh37/hg19 19q13.12(chr19:36606538-36643669)x3	TBCB, CAPNS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25