ClinVar for Gene (Select 55588) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294069	NM_017592.4(MED29):c.542G>A (p.Cys181Tyr)	MED29 (V158M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125075	NM_017592.4(MED29):c.-8C>G	MED29	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125074	NM_017592.4(MED29):c.410C>T (p.Ser137Phe)	MED29 (S137F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3125072	NM_017592.4(MED29):c.232G>A (p.Ala78Thr)	MED29 (A78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125071	NM_017592.4(MED29):c.-44A>T	MED29	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3125070	NM_017592.2(MED29):c.10A>C (p.Ser4Arg)	MED29 (S4R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2649832	NM_017592.4(MED29):c.195G>T (p.Pro65=)	LOC130064400, MED29	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2598445	NM_017592.4(MED29):c.302G>A (p.Arg101His)	MED29 (R101H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569774	NM_017592.4(MED29):c.292C>G (p.Pro98Ala)	MED29 (P98A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495253	NM_017592.2(MED29):c.16G>A (p.Gly6Arg)	MED29 (G6R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464405	NM_017592.4(MED29):c.485C>T (p.Ala162Val)	MED29 (R139W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2372181	NM_017592.4(MED29):c.299A>G (p.Gln100Arg)	MED29 (Q100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262937	NM_017592.4(MED29):c.-39C>T	MED29	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236421	NM_017592.4(MED29):c.598C>G (p.Leu200Val)	MED29 (L200V)	Single nucleotide variant (synonymous variant +2 more)	not specified	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221542	GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3	MED29, PAF1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 24