MED19[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 58162	GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3	BTBD18, CLP1 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2266742	NM_001317078.4(MED19):c.568C>A (p.Pro190Thr)	LOC126861215, MED19 (P190T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350852	NM_001317078.4(MED19):c.548G>A (p.Arg183His)	LOC126861215, MED19 (R183H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481088	NM_001317078.4(MED19):c.522G>T (p.Lys174Asn)	LOC126861215, MED19 (K174N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125003	NM_001317078.4(MED19):c.479C>T (p.Pro160Leu)	LOC126861215, MED19 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210064	NM_001317078.4(MED19):c.472C>T (p.Pro158Ser)	LOC126861215, MED19 (P158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460411	NM_001317078.4(MED19):c.385T>G (p.Ser129Ala)	LOC126861215, MED19 (S129A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125001	NM_001317078.4(MED19):c.368A>G (p.Asp123Gly)	LOC126861215, MED19 (D123G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299305	NM_001317078.4(MED19):c.154C>T (p.Pro52Ser)	LOC130005722, MED19 (P52S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125000	NM_001317078.4(MED19):c.116G>T (p.Gly39Val)	LOC130005722, MED19 (G39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557546	NM_001317078.4(MED19):c.92C>G (p.Pro31Arg)	LOC130005722, MED19 (P31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411944	NM_001317078.4(MED19):c.55A>G (p.Thr19Ala)	LOC130005722, MED19 (T19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 975444	NM_001317078.4(MED19):c.-2C>T	LOC130005722, MED19	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability	GLikely benign
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063212	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not specified	GUncertain significance
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1339813	GRCh37/hg19 11q12.1(chr11:57112299-57871866)x3	BTBD18, CLP1 +19 more	Copy number gain	not provided	Gnot provided
Select item 1074254	NC_000011.9:g.(?_57471510)_(57564464_?)del	BTBD18, CTNND1 +3 more	Deletion	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 684481	Single allele	APLNR, BTBD18 +67 more	Duplication	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 26