TIMM13[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 2359249	NM_001395513.1(TMPRSS9):c.3126C>G (p.Asp1042Glu)	TIMM13, TMPRSS9 (D1008E +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222035	NM_001395513.1(TMPRSS9):c.3136C>T (p.Pro1046Ser)	TIMM13, TMPRSS9 (P1012S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222036	NM_001395513.1(TMPRSS9):c.3142G>C (p.Ala1048Pro)	TIMM13, TMPRSS9 (A1014P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179985	NM_001395513.1(TMPRSS9):c.3153G>C (p.Glu1051Asp)	TIMM13, TMPRSS9 (E1051D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306525	NM_001395513.1(TMPRSS9):c.3157T>G (p.Ser1053Ala)	TIMM13, TMPRSS9 (S1019A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245589	NM_001395513.1(TMPRSS9):c.3164G>A (p.Arg1055Gln)	TIMM13, TMPRSS9 (R1055Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179986	NM_001395513.1(TMPRSS9):c.3176C>G (p.Thr1059Ser)	TIMM13, TMPRSS9 (T1025S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3327381	NM_001395513.1(TMPRSS9):c.3191G>C (p.Trp1064Ser)	TIMM13, TMPRSS9 (W1030S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3179987	NM_001395513.1(TMPRSS9):c.3199G>A (p.Gly1067Ser)	TIMM13, TMPRSS9 (G1033S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2208219	NM_001395513.1(TMPRSS9):c.3214C>G (p.His1072Asp)	TIMM13, TMPRSS9 (H840D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2366512	NM_001395513.1(TMPRSS9):c.3215A>C (p.His1072Pro)	TIMM13, TMPRSS9 (H1038P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 783812	NM_001395513.1(TMPRSS9):c.3233C>T (p.Thr1078Ile)	TIMM13, TMPRSS9 (T1044I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3179989	NM_001395513.1(TMPRSS9):c.3253G>A (p.Gly1085Ser)	TIMM13, TMPRSS9 (G1051S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2594263	NM_001395513.1(TMPRSS9):c.3272T>C (p.Ile1091Thr)	TIMM13, TMPRSS9 (I1057T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519167	NM_012458.4(TIMM13):c.242C>T (p.Ser81Phe)	LOC106804547, TIMM13 (S81F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326177	NM_012458.4(TIMM13):c.235A>G (p.Thr79Ala)	LOC106804547, TIMM13 (T79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339850	NM_012458.4(TIMM13):c.134A>G (p.Lys45Arg)	LOC106804547, TIMM13 (K45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177527	NM_012458.4(TIMM13):c.119A>G (p.Gln40Arg)	LOC106804547, TIMM13 (Q40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543240	NM_012458.4(TIMM13):c.56C>G (p.Pro19Arg)	LOC106804547, TIMM13 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277411	NM_012458.4(TIMM13):c.35C>T (p.Ser12Phe)	LOC106804547, TIMM13 (S12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	C19orf25, CSNK1G2 +35 more	Duplication	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1808895	GRCh37/hg19 19p13.3(chr19:2376834-2515283)x1	GADD45B, GNG7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 929386	GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3	DIRAS1, GADD45B +15 more	Copy number gain	See cases	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ADAMTSL5, PLEKHJ1 +106 more	Copy number gain	not provided	GPathogenic
Select item 688246	GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1	DIRAS1, GADD45B +10 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	AP3D1, SPPL2B +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	NDUFS7, OAZ1 +100 more	Copy number gain	Seizure +2 more	GLikely pathogenic
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 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 47