23393[HGNC] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 2248989	NM_199141.2(CARM1):c.20C>T (p.Ala7Val)	CARM1 (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137381	NM_199141.2(CARM1):c.44C>T (p.Ala15Val)	CARM1, LOC130063539 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137374	NM_199141.2(CARM1):c.116C>G (p.Thr39Ser)	CARM1 (T39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521949	NM_199141.2(CARM1):c.164C>A (p.Ala55Glu)	CARM1 (A55E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398175	NM_199141.2(CARM1):c.184G>T (p.Ala62Ser)	CARM1, LOC130063540 (A62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280338	NM_199141.2(CARM1):c.187G>A (p.Gly63Ser)	CARM1, LOC130063540 (G63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137378	NM_199141.2(CARM1):c.203G>T (p.Gly68Val)	CARM1, LOC130063540 (G68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265853	NM_199141.2(CARM1):c.218G>A (p.Ser73Asn)	CARM1, LOC130063540 (S73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616274	NM_199141.2(CARM1):c.319G>A (p.Val107Ile)	CARM1 (V107I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992650	NM_199141.2(CARM1):c.362A>T (p.Tyr121Phe)	CARM1 (Y121F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2239825	NM_199141.2(CARM1):c.382C>T (p.Arg128Trp)	CARM1 (R128W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137379	NM_199141.2(CARM1):c.401G>A (p.Arg134Gln)	CARM1 (R134Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252067	NM_199141.2(CARM1):c.421A>G (p.Thr141Ala)	CARM1 (T106A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3137380	NM_199141.2(CARM1):c.439G>T (p.Val147Leu)	CARM1 (V112L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363725	NM_199141.2(CARM1):c.604G>T (p.Ala202Ser)	CARM1 (A202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783826	NM_199141.2(CARM1):c.678G>A (p.Val226=)	CARM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137376	NM_199141.2(CARM1):c.1281C>G (p.Phe427Leu)	CARM1 (F392L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263323	NM_199141.2(CARM1):c.1282G>A (p.Ala428Thr)	CARM1 (A393T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315008	NM_199141.2(CARM1):c.1378G>A (p.Gly460Ser)	CARM1 (G425S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263325	NM_199141.2(CARM1):c.1609C>G (p.Pro537Ala)	CARM1 (P502A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137377	NM_199141.2(CARM1):c.1721C>T (p.Thr574Met)	CARM1 (T516M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777443	NM_199141.2(CARM1):c.1722G>A (p.Thr574=)	CARM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248377	NC_000019.9:g.(?_10828919)_(11222335_?)del	C19orf38, CARM1 +7 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1808277	GRCh37/hg19 19p13.2(chr19:10871121-11012295)x1	C19orf38, CARM1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 1041299	NC_000019.9:g.(?_10912954)_(11200309_?)dup	C19orf38, CARM1 +7 more	Duplication	Familial hypercholesterolemia	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 44