7305[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 121

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 1238245	NC_000019.10:g.35904362dup	HCST, TYROBP	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 890876	NM_003332.4(TYROBP):c.*154T>C	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328888	NM_003332.4(TYROBP):c.*140T>C	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 more	GBenign/Likely benign
Select item 328889	NM_003332.4(TYROBP):c.*103T>A	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328890	NM_003332.4(TYROBP):c.*85C>T	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328891	NM_003332.4(TYROBP):c.*83C>T	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 more	GBenign/Likely benign
Select item 328892	NM_003332.4(TYROBP):c.*25A>C	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 more	GBenign
Select item 328893	NM_003332.4(TYROBP):c.*5G>A	TYROBP	Single nucleotide variant (3 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 2095906	NM_003332.4(TYROBP):c.335A>G (p.Tyr112Cys)	TYROBP (Y101C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901180	NM_003332.4(TYROBP):c.330G>A (p.Pro110=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1205974	NM_003332.4(TYROBP):c.329C>T (p.Pro110Leu)	TYROBP (P109L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1429380	NM_003332.4(TYROBP):c.310G>A (p.Asp104Asn)	TYROBP (D93N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1519128	NM_003332.4(TYROBP):c.297G>A (p.Ser99=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2536711	NM_003332.4(TYROBP):c.296C>G (p.Ser99Trp)	TYROBP (S99W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2063515	NM_003332.4(TYROBP):c.296C>T (p.Ser99Leu)	TYROBP (S88L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1986887	NM_003332.4(TYROBP):c.290A>G (p.Gln97Arg)	TYROBP (Q86R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1639339	NM_003332.4(TYROBP):c.277-6C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125146	NM_003332.4(TYROBP):c.277-10A>G	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910161	NM_003332.4(TYROBP):c.277-27_277-11dup	TYROBP	Duplication (intron variant)	not provided	GLikely benign
Select item 2881399	NM_003332.4(TYROBP):c.277-14C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220182	NM_003332.4(TYROBP):c.277-27T>G	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287283	NM_003332.4(TYROBP):c.277-191G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 5795	NC_000019.10:g.35905861_35911126del	LOC130064269, LOC130064270 +2 more	Deletion	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GPathogenic
Select item 192243	NC_000019.10:g.35905884_35911125del	TYROBP, LOC130064269 +2 more	Deletion	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	Gnot provided
Select item 2028825	NM_003332.4(TYROBP):c.276+20C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1935432	NM_003332.4(TYROBP):c.276+5G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1547938	NM_003332.4(TYROBP):c.267G>A (p.Ser89=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1471000	NM_003332.4(TYROBP):c.266C>T (p.Ser89Leu)	TYROBP (S77L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2069206	NM_003332.4(TYROBP):c.262_263insTATCACTG (p.Glu88fs)	TYROBP (E77fs +3 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 56397	NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter)	TYROBP (E76* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1652182	NM_003332.4(TYROBP):c.261C>A (p.Thr87=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1603186	NM_003332.4(TYROBP):c.261C>T (p.Thr87=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069233	NM_003332.4(TYROBP):c.260C>G (p.Thr87Ser)	TYROBP (T76S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1547397	NM_003332.4(TYROBP):c.252C>T (p.Ile84=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2332586	NM_003332.4(TYROBP):c.248G>T (p.Arg83Leu)	TYROBP (R83L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1429130	NM_003332.4(TYROBP):c.248G>A (p.Arg83His)	TYROBP (R72H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1497030	NM_003332.4(TYROBP):c.247C>T (p.Arg83Cys)	TYROBP (R72C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 501065	NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp)	TYROBP (R80W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1408302	NM_003332.4(TYROBP):c.233C>A (p.Ala78Glu)	TYROBP (A66E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1364934	NM_003332.4(TYROBP):c.233C>T (p.Ala78Val)	TYROBP (A66V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 892112	NM_003332.4(TYROBP):c.230-3C>T	TYROBP	Single nucleotide variant (intron variant)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 2954681	NM_003332.4(TYROBP):c.230-14C>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655802	NM_003332.4(TYROBP):c.230-16C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533822	NM_003332.4(TYROBP):c.230-18A>C	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009250	NM_003332.4(TYROBP):c.229+13A>G	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1480054	NM_003332.4(TYROBP):c.224C>T (p.Ala75Val)	TYROBP (A64V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1931201	NM_003332.4(TYROBP):c.222T>C (p.Ala74=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2098341	NM_003332.4(TYROBP):c.209G>C (p.Arg70Pro)	TYROBP (R59P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 756638	NM_003332.4(TYROBP):c.209G>A (p.Arg70Gln)	TYROBP (R59Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1302050	NM_003332.4(TYROBP):c.208C>T (p.Arg70Trp)	TYROBP (R59W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1469460	NM_003332.4(TYROBP):c.202G>C (p.Val68Leu)	TYROBP (V57L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1638056	NM_003332.4(TYROBP):c.186C>T (p.Tyr62=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1565298	NM_003332.4(TYROBP):c.180C>T (p.Ala60=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 892113	NM_003332.4(TYROBP):c.180C>G (p.Ala60=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2971688	NM_003332.4(TYROBP):c.171T>A (p.Ile57=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 196360	NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)	TYROBP (V55L +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +2 more	GBenign
Select item 1365726	NM_003332.4(TYROBP):c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC (p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArgAspGlyArg)	TYROBP	Insertion (inframe_insertion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 56396	NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg)	TYROBP (G38R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 377100	NM_003332.4(TYROBP):c.142A>G (p.Met48Val)	TYROBP (M48V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2765710	NM_003332.4(TYROBP):c.141G>A (p.Val47=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 56395	NM_003332.4(TYROBP):c.141del (p.Met48fs)	TYROBP (M37fs +1 more)	Deletion (frameshift variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GPathogenic/Likely pathogenic
Select item 892114	NM_003332.4(TYROBP):c.140T>C (p.Val47Ala)	TYROBP (V47A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2227772	NM_003332.4(TYROBP):c.139G>A (p.Val47Met)	TYROBP (V36M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1430408	NM_003332.4(TYROBP):c.130G>A (p.Ala44Thr)	TYROBP (A33T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1449571	NM_003332.4(TYROBP):c.124G>A (p.Val42Met)	TYROBP (V31M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1562937	NM_003332.4(TYROBP):c.123C>T (p.Gly41=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 328894	NM_003332.4(TYROBP):c.123C>G (p.Gly41=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1596780	NM_003332.4(TYROBP):c.120G>A (p.Pro40=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 595538	NM_003332.4(TYROBP):c.119C>T (p.Pro40Leu)	TYROBP (P40L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 56394	NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn)	TYROBP (S28N +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GLikely pathogenic
Select item 892115	NM_003332.4(TYROBP):c.112G>A (p.Val38Met)	TYROBP (V27M +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 737347	NM_003332.4(TYROBP):c.111G>A (p.Thr37=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 +1 more	GConflicting classifications of pathogenicity
Select item 1434136	NM_003332.4(TYROBP):c.96T>A (p.Asp32Glu)	TYROBP (D32E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1625150	NM_003332.4(TYROBP):c.95-5T>C	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754255	NM_003332.4(TYROBP):c.95-11C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214384	NM_003332.4(TYROBP):c.94+71T>C	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251443	NM_003332.4(TYROBP):c.94+39G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868183	NM_003332.4(TYROBP):c.94+17C>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823320	NM_003332.4(TYROBP):c.94+16G>C	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328895	NM_003332.4(TYROBP):c.94+10G>C	TYROBP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1446782	NM_003332.4(TYROBP):c.94+6C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2052028	NM_003332.4(TYROBP):c.94G>T (p.Asp32Tyr)	TYROBP (D32Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 374122	NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn)	TYROBP (D32N)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 1935007	NM_003332.4(TYROBP):c.82C>T (p.Gln28Ter)	TYROBP (Q28*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2251093	NM_003332.4(TYROBP):c.80C>T (p.Ala27Val)	TYROBP (A27V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215527	NM_003332.4(TYROBP):c.79G>A (p.Ala27Thr)	TYROBP (A27T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1523753	NM_003332.4(TYROBP):c.74_79del (p.Val25_Gln26del)	TYROBP	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1961029	NM_003332.4(TYROBP):c.68G>T (p.Arg23Leu)	TYROBP (R23L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 328896	NM_003332.4(TYROBP):c.68G>A (p.Arg23His)	TYROBP (R23H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1471004	NM_003332.4(TYROBP):c.67C>T (p.Arg23Cys)	TYROBP (R23C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1629060	NM_003332.4(TYROBP):c.62-18C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288066	NM_003332.4(TYROBP):c.61+171G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1401547	NM_003332.4(TYROBP):c.58A>G (p.Ser20Gly)	TYROBP (S20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545857	NM_003332.4(TYROBP):c.55G>T (p.Val19Leu)	TYROBP (V19L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276296	NM_003332.4(TYROBP):c.55G>A (p.Val19Ile)	TYROBP (V19I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380262	NM_003332.4(TYROBP):c.53C>G (p.Ala18Gly)	TYROBP (A18G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 732760	NM_003332.4(TYROBP):c.46C>T (p.Leu16=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2