ClinVar for Gene (Select 7305) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3009250	NM_003332.4(TYROBP):c.229+13A>G	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2954681	NM_003332.4(TYROBP):c.230-14C>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2881399	NM_003332.4(TYROBP):c.277-14C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2765710	NM_003332.4(TYROBP):c.141G>A (p.Val47=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	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 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 2615342	NM_003332.4(TYROBP):c.8G>A (p.Gly3Glu)	TYROBP (G3E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2424673	NC_000019.9:g.(?_36398100)_(36399130_?)del	TYROBP	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
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 2276296	NM_003332.4(TYROBP):c.55G>A (p.Val19Ile)	TYROBP (V19I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2125146	NM_003332.4(TYROBP):c.277-10A>G	TYROBP	Single nucleotide variant (intron variant)	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 2095906	NM_003332.4(TYROBP):c.335A>G (p.Tyr112Cys)	TYROBP (Y101C +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 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 2053949	NM_003332.4(TYROBP):c.5G>A (p.Gly2Glu)	TYROBP (G2E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 2028825	NM_003332.4(TYROBP):c.276+20C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1935432	NM_003332.4(TYROBP):c.276+5G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	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 1931201	NM_003332.4(TYROBP):c.222T>C (p.Ala74=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	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 1655802	NM_003332.4(TYROBP):c.230-16C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1639339	NM_003332.4(TYROBP):c.277-6C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1629060	NM_003332.4(TYROBP):c.62-18C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1625150	NM_003332.4(TYROBP):c.95-5T>C	TYROBP	Single nucleotide variant (intron variant)	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 1596780	NM_003332.4(TYROBP):c.120G>A (p.Pro40=)	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 1562937	NM_003332.4(TYROBP):c.123C>T (p.Gly41=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1547938	NM_003332.4(TYROBP):c.267G>A (p.Ser89=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	TYROBP-related condition +1 more	GLikely benign
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 1533822	NM_003332.4(TYROBP):c.230-18A>C	TYROBP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1519128	NM_003332.4(TYROBP):c.297G>A (p.Ser99=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 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 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 1449571	NM_003332.4(TYROBP):c.124G>A (p.Val42Met)	TYROBP (V31M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446782	NM_003332.4(TYROBP):c.94+6C>T	TYROBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 1429130	NM_003332.4(TYROBP):c.248G>A (p.Arg83His)	TYROBP (R72H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
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 1401547	NM_003332.4(TYROBP):c.58A>G (p.Ser20Gly)	TYROBP (S20G)	Single nucleotide variant (missense variant)	not provided	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 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 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 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	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 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 1288066	NM_003332.4(TYROBP):c.61+171G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287283	NM_003332.4(TYROBP):c.277-191G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285726	NC_000019.10:g.35908331G>A	TYROBP	Single nucleotide variant	not provided	GBenign
Select item 1275926	NC_000019.10:g.35908444C>T	TYROBP	Single nucleotide variant	not provided	GBenign
Select item 1251443	NM_003332.4(TYROBP):c.94+39G>A	TYROBP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238245	NM_014266.4(HCST):c.*202dup	HCST, TYROBP	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1220182	NM_003332.4(TYROBP):c.277-27T>G	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 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 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 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 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 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 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 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 737347	NM_003332.4(TYROBP):c.111G>A (p.Thr37=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732760	NM_003332.4(TYROBP):c.46C>T (p.Leu16=)	TYROBP	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 501065	NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp)	TYROBP (R80W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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 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 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 328898	NM_003332.4(TYROBP):c.-50G>A	TYROBP	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance
Select item 328897	NM_003332.4(TYROBP):c.-34C>T	TYROBP	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	GUncertain significance

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