ClinVar for Gene (Select 10744) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311709	NM_006607.3(PTTG2):c.275A>G (p.Lys92Arg)	PTTG2, TBC1D1 (K92R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311708	NM_006607.3(PTTG2):c.442A>G (p.Ile148Val)	PTTG2, TBC1D1 (I148V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149743	NM_006607.3(PTTG2):c.565C>A (p.Pro189Thr)	PTTG2, TBC1D1 (P189T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149742	NM_006607.3(PTTG2):c.533T>C (p.Leu178Pro)	PTTG2, TBC1D1 (L178P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149741	NM_006607.3(PTTG2):c.49C>T (p.Arg17Cys)	PTTG2, TBC1D1 (R17C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149740	NM_006607.3(PTTG2):c.428G>A (p.Gly143Glu)	PTTG2, TBC1D1 (G143E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149739	NM_006607.3(PTTG2):c.400C>T (p.Arg134Cys)	PTTG2, TBC1D1 (R134C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149738	NM_006607.3(PTTG2):c.283G>A (p.Glu95Lys)	PTTG2, TBC1D1 (E95K)	Single nucleotide variant (missense variant +1 more)	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 2685963	GRCh37/hg19 4p14(chr4:37769060-37985461)x3	PGM2, PTTG2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2588907	NM_006607.3(PTTG2):c.279G>A (p.Met93Ile)	PTTG2, TBC1D1 (M93I)	Single nucleotide variant (missense variant +1 more)	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 2570345	NM_006607.3(PTTG2):c.506T>G (p.Met169Arg)	PTTG2, TBC1D1 (M169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556556	NM_006607.3(PTTG2):c.41C>G (p.Pro14Arg)	PTTG2, TBC1D1 (P14R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547685	NM_006607.3(PTTG2):c.158C>T (p.Pro53Leu)	PTTG2, TBC1D1 (P53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529202	NM_006607.3(PTTG2):c.272A>G (p.Lys91Arg)	PTTG2, TBC1D1 (K91R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2459208	NM_006607.3(PTTG2):c.261C>A (p.Ser87Arg)	PTTG2, TBC1D1 (S87R)	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 2364361	NM_006607.3(PTTG2):c.298A>G (p.Thr100Ala)	PTTG2, TBC1D1 (T100A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357266	NM_006607.3(PTTG2):c.194G>A (p.Gly65Asp)	PTTG2, TBC1D1 (G65D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355481	NM_006607.3(PTTG2):c.50G>A (p.Arg17His)	PTTG2, TBC1D1 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290186	NM_006607.3(PTTG2):c.530A>G (p.Asn177Ser)	PTTG2, TBC1D1 (N177S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209227	NM_006607.3(PTTG2):c.178A>G (p.Thr60Ala)	PTTG2, TBC1D1 (T60A)	Single nucleotide variant (missense variant +1 more)	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 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	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)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +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 150318	GRCh38/hg38 4p14(chr4:37283110-38559285)x3	C4orf19, LINC01258 +68 more	Copy number gain	See cases	GUncertain significance
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	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

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Links from Gene

Items: 38