YIPF7[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58027	GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3	LOC129992578, MIR8053 +81 more	Copy number gain	See cases	GPathogenic
Select item 2609478	NM_182592.3(YIPF7):c.719C>G (p.Ala240Gly)	YIPF7 (A240G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354191	NM_182592.3(YIPF7):c.704A>C (p.Gln235Pro)	YIPF7 (Q235P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540218	NM_182592.3(YIPF7):c.694A>T (p.Met232Leu)	YIPF7 (M232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333685	NM_182592.3(YIPF7):c.632C>T (p.Ser211Phe)	YIPF7 (S211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387080	NM_182592.3(YIPF7):c.550G>T (p.Gly184Cys)	YIPF7 (G184C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381841	NM_182592.3(YIPF7):c.544G>A (p.Val182Met)	YIPF7 (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600577	NM_182592.3(YIPF7):c.527A>G (p.Tyr176Cys)	YIPF7 (Y176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281360	NM_182592.3(YIPF7):c.517G>A (p.Gly173Arg)	YIPF7 (G173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191534	NM_182592.3(YIPF7):c.505A>T (p.Met169Leu)	YIPF7 (M169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223908	NM_182592.3(YIPF7):c.455A>G (p.Tyr152Cys)	YIPF7 (Y152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333684	NM_182592.3(YIPF7):c.420G>C (p.Leu140Phe)	YIPF7 (L140F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206556	NM_182592.3(YIPF7):c.403G>T (p.Ala135Ser)	YIPF7 (A135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191533	NM_182592.3(YIPF7):c.361A>G (p.Met121Val)	YIPF7 (M121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376550	NM_182592.3(YIPF7):c.321G>T (p.Leu107Phe)	YIPF7 (L107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244730	NM_182592.3(YIPF7):c.244A>T (p.Ile82Phe)	YIPF7 (I82F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333687	NM_182592.3(YIPF7):c.179C>T (p.Ser60Leu)	YIPF7 (S60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244729	NM_182592.3(YIPF7):c.89C>A (p.Ala30Asp)	YIPF7 (A30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191535	NM_182592.3(YIPF7):c.1A>T (p.Met1Leu)	YIPF7 (M1L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191532	NM_182592.3(YIPF7):c.-47C>A	YIPF7	Single nucleotide variant (5 prime UTR 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 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 814546	GRCh37/hg19 4p13-12(chr4:42626603-45438191)x1	YIPF7, GRXCR1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562908	GRCh37/hg19 4p13-12(chr4:42193789-47001790)x3	COX7B2, GABRG1 +9 more	Copy number gain	not provided	GUncertain significance
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 441660	GRCh37/hg19 4p12(chr4:44637850-46618566)x1	GABRA2, GABRG1 +3 more	Copy number loss	See cases	GUncertain significance
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 394286	GRCh37/hg19 4p12(chr4:44624389-44630980)x1	YIPF7	Copy number loss	See cases	GUncertain significance
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 41