ClinVar for Gene (Select 55296) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324647	NM_018317.4(TBC1D19):c.526C>G (p.Leu176Val)	TBC1D19 (L111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174523	NM_018317.4(TBC1D19):c.785C>T (p.Ala262Val)	TBC1D19 (A197V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174522	NM_018317.4(TBC1D19):c.764C>A (p.Ala255Glu)	TBC1D19 (A190E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174521	NM_018317.4(TBC1D19):c.505A>G (p.Asn169Asp)	TBC1D19 (N104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174520	NM_018317.4(TBC1D19):c.496C>T (p.Arg166Cys)	TBC1D19 (R166C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2611705	NM_018317.4(TBC1D19):c.383A>G (p.Glu128Gly)	TBC1D19 (E128G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604983	NM_018317.4(TBC1D19):c.255A>C (p.Glu85Asp)	TBC1D19 (E85D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597337	NM_018317.4(TBC1D19):c.1087G>A (p.Val363Ile)	TBC1D19 (V298I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2552919	NM_018317.4(TBC1D19):c.497G>A (p.Arg166His)	TBC1D19 (R166H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541335	NM_018317.4(TBC1D19):c.97T>A (p.Trp33Arg)	TBC1D19 (W33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472293	NM_018317.4(TBC1D19):c.173G>A (p.Gly58Asp)	TBC1D19 (G58D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2393825	NM_018317.4(TBC1D19):c.365G>A (p.Arg122Gln)	TBC1D19 (R122Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357267	NM_018317.4(TBC1D19):c.241G>T (p.Ala81Ser)	TBC1D19 (A81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299277	NM_018317.4(TBC1D19):c.731C>T (p.Ala244Val)	TBC1D19 (A179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276491	NM_018317.4(TBC1D19):c.415A>G (p.Met139Val)	TBC1D19 (M139V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275183	NM_018317.4(TBC1D19):c.1112T>C (p.Met371Thr)	TBC1D19 (M371T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212492	NM_018317.4(TBC1D19):c.526C>T (p.Leu176Phe)	TBC1D19 (L111F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 980665	GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3	CCKAR, RBPJ +2 more	Copy number gain	not provided	GUncertain significance
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49