56006[geneid] - ClinVar

Search results

Items: 94

	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 728078	NM_019108.4(SMG9):c.1551C>T (p.Arg517=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920667	NM_019108.4(SMG9):c.1508G>C (p.Trp503Ser)	SMG9 (W503S)	Single nucleotide variant (missense variant)	Heart and brain malformation syndrome	GPathogenic
Select item 3166550	NM_019108.4(SMG9):c.1502G>A (p.Arg501Gln)	SMG9 (R501Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032512	NM_019108.4(SMG9):c.1464G>A (p.Thr488=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GLikely benign
Select item 3251378	NM_019108.4(SMG9):c.1426C>T (p.Gln476Ter)	SMG9 (Q476*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	GPathogenic
Select item 3166549	NM_019108.4(SMG9):c.1420C>T (p.Arg474Trp)	SMG9 (R474W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320968	NM_019108.4(SMG9):c.1390C>T (p.Pro464Ser)	SMG9 (P464S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166548	NM_019108.4(SMG9):c.1379A>G (p.Tyr460Cys)	SMG9 (Y460C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393249	NM_019108.4(SMG9):c.1352G>A (p.Ser451Asn)	SMG9 (S451N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713846	NM_019108.4(SMG9):c.1290G>A (p.Leu430=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3048408	NM_019108.4(SMG9):c.1275G>A (p.Glu425=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GLikely benign
Select item 3166547	NM_019108.4(SMG9):c.1258G>C (p.Asp420His)	SMG9 (D420H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520551	NM_019108.4(SMG9):c.1249C>T (p.Leu417Phe)	SMG9 (L417F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067346	NM_019108.4(SMG9):c.1244C>T (p.Pro415Leu)	SMG9 (P415L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573804	NM_019108.4(SMG9):c.1235A>G (p.Asn412Ser)	SMG9 (N412S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046450	NM_019108.4(SMG9):c.1209G>A (p.Lys403=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GLikely benign
Select item 984562	NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter)	SMG9 (Q393*)	Single nucleotide variant (nonsense)	Heart and brain malformation syndrome +1 more	GPathogenic
Select item 712249	NM_019108.4(SMG9):c.1154G>A (p.Arg385Gln)	SMG9 (R385Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2207453	NM_019108.4(SMG9):c.1144C>T (p.Arg382Trp)	SMG9 (R382W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370579	NM_019108.4(SMG9):c.1124G>A (p.Arg375His)	SMG9 (R375H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051308	NM_019108.4(SMG9):c.1102+9C>A	SMG9	Single nucleotide variant (intron variant)	SMG9-related disorder	GLikely benign
Select item 3040529	NM_019108.4(SMG9):c.1071C>T (p.Ser357=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GLikely benign
Select item 2363605	NM_019108.4(SMG9):c.1067G>T (p.Gly356Val)	SMG9 (G356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727370	NM_019108.4(SMG9):c.1062A>C (p.Ser354=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039221	NM_019108.4(SMG9):c.1047C>T (p.His349=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GBenign
Select item 3336546	NM_019108.4(SMG9):c.1033C>T (p.Pro345Ser)	SMG9 (P345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320969	NM_019108.4(SMG9):c.964C>G (p.Gln322Glu)	SMG9 (Q322E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996706	NM_019108.4(SMG9):c.947A>G (p.His316Arg)	SMG9 (H316R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	Gassociation
Select item 738757	NM_019108.4(SMG9):c.939G>A (p.Thr313=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233638	NM_019108.4(SMG9):c.892A>G (p.Thr298Ala)	SMG9 (T298A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228670	NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)	SMG9 (E263*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 736194	NM_019108.4(SMG9):c.786A>G (p.Gln262=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166554	NM_019108.4(SMG9):c.752A>G (p.Asn251Ser)	SMG9 (N251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166553	NM_019108.4(SMG9):c.751A>C (p.Asn251His)	SMG9 (N251H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253491	NM_019108.4(SMG9):c.708del (p.Thr235_Tyr236insTer)	SMG9	Deletion (nonsense)	not provided	GUncertain significance
Select item 1333142	NM_019108.4(SMG9):c.701+46T>C	SMG9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 224498	NM_019108.4(SMG9):c.701+4A>G	SMG9	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1028630	NM_019108.4(SMG9):c.662T>C (p.Met221Thr)	SMG9 (M221T)	Single nucleotide variant (missense variant)	Heart and brain malformation syndrome	GUncertain significance
Select item 2573805	NM_019108.4(SMG9):c.658G>A (p.Val220Ile)	SMG9 (V220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2436203	NM_019108.4(SMG9):c.611T>A (p.Val204Glu)	SMG9 (V204E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 987257	NM_019108.4(SMG9):c.610dup (p.Val204fs)	SMG9 (V204fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3049841	NM_019108.4(SMG9):c.588+10G>A	SMG9	Single nucleotide variant (intron variant)	SMG9-related disorder	GLikely benign
Select item 726162	NM_019108.4(SMG9):c.588+7A>C	SMG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769016	NM_019108.4(SMG9):c.588+5C>T	SMG9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3049857	NM_019108.4(SMG9):c.585C>T (p.Ile195=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GLikely benign
Select item 1700631	NM_019108.4(SMG9):c.551T>C (p.Val184Ala)	SMG9 (V184A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	GPathogenic
Select item 2375047	NM_019108.4(SMG9):c.530T>C (p.Met177Thr)	SMG9 (M177T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231390	NM_019108.4(SMG9):c.527G>C (p.Arg176Pro)	SMG9 (R176P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224497	NM_019108.4(SMG9):c.520_521del (p.Pro174fs)	SMG9 (P174fs)	Deletion (frameshift variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 2362518	NM_019108.4(SMG9):c.518C>T (p.Pro173Leu)	SMG9 (P173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320965	NM_019108.4(SMG9):c.496G>A (p.Val166Met)	SMG9 (V166M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585432	NM_019108.4(SMG9):c.490C>T (p.Pro164Ser)	SMG9 (P164S)	Single nucleotide variant (missense variant)	Heart and brain malformation syndrome	GUncertain significance
Select item 2521474	NM_019108.4(SMG9):c.458G>T (p.Gly153Val)	SMG9 (G153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 743147	NM_019108.4(SMG9):c.435T>C (p.Pro145=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3320967	NM_019108.4(SMG9):c.392C>T (p.Ala131Val)	SMG9 (A131V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 799377	NM_019108.4(SMG9):c.390T>A (p.Pro130=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207469	NM_019108.4(SMG9):c.382G>A (p.Ala128Thr)	SMG9 (A128T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792191	NM_019108.4(SMG9):c.381T>A (p.Pro127=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731372	NM_019108.4(SMG9):c.377C>T (p.Pro126Leu)	SMG9 (P126L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 742273	NM_019108.4(SMG9):c.366C>T (p.Thr122=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238892	NM_019108.4(SMG9):c.365C>A (p.Thr122Asn)	SMG9 (T122N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166552	NM_019108.4(SMG9):c.362G>T (p.Gly121Val)	SMG9 (G121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 764887	NM_019108.4(SMG9):c.354C>G (p.Thr118=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735664	NM_019108.4(SMG9):c.336C>T (p.Ala112=)	LOC130064611, SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309815	NM_019108.4(SMG9):c.308C>T (p.Pro103Leu)	LOC130064611, SMG9 (P103L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320966	NM_019108.4(SMG9):c.263C>T (p.Pro88Leu)	LOC130064611, SMG9 (P88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526691	NM_019108.4(SMG9):c.251C>A (p.Ala84Asp)	LOC130064611, SMG9 (A84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166551	NM_019108.4(SMG9):c.248C>T (p.Thr83Ile)	LOC130064611, SMG9 (T83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252958	NM_019108.4(SMG9):c.247A>G (p.Thr83Ala)	LOC130064611, SMG9 (T83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229592	NM_019108.4(SMG9):c.226-3T>C	LOC130064611, SMG9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 755327	NM_019108.4(SMG9):c.226-5C>T	LOC130064611, SMG9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2455016	NM_019108.4(SMG9):c.196A>G (p.Ile66Val)	SMG9 (I66V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3339762	NM_019108.4(SMG9):c.195del (p.Ile66fs)	SMG9 (I66fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies	GPathogenic
Select item 2572760	NM_019108.4(SMG9):c.193C>T (p.Pro65Ser)	SMG9 (P65S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727167	NM_019108.4(SMG9):c.159C>T (p.Ser53=)	SMG9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2222595	NM_019108.4(SMG9):c.150+3G>A	SMG9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2313299	NM_019108.4(SMG9):c.139A>G (p.Arg47Gly)	SMG9 (R47G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383253	NM_019108.4(SMG9):c.133T>C (p.Trp45Arg)	SMG9 (W45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166546	NM_019108.4(SMG9):c.110G>A (p.Arg37Gln)	SMG9 (R37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436202	NM_019108.4(SMG9):c.109C>T (p.Arg37Trp)	SMG9 (R37W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436201	NM_019108.4(SMG9):c.106G>A (p.Gly36Ser)	SMG9 (G36S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488984	NM_019108.4(SMG9):c.49C>T (p.Arg17Trp)	SMG9 (R17W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3355392	NM_019108.4(SMG9):c.33C>T (p.Leu11=)	SMG9	Single nucleotide variant (synonymous variant)	SMG9-related disorder	GLikely benign
Select item 2572731	NM_019108.4(SMG9):c.22C>T (p.Gln8Ter)	SMG9 (Q8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3067737	NM_019108.4(SMG9):c.18del (p.His6fs)	SMG9 (H6fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2691293	NC_000019.9:g.(?_44232134)_(44259115_?)del	SMG9	Deletion	Heart and brain malformation syndrome	GPathogenic
Select item 2425936	NC_000019.9:g.(?_44011002)_(45213778_?)dup	CADM4, CEACAM16 +37 more	Duplication	Ethylmalonic encephalopathy	GUncertain significance
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 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 94