ClinVar for Gene (Select 285429) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270981	NM_001029955.4(DCAF4L1):c.452A>G (p.Asp151Gly)	DCAF4L1, LOC126807044 (D151G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270979	NM_001029955.4(DCAF4L1):c.832A>G (p.Ile278Val)	DCAF4L1, LOC126807044 (I278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080301	NM_001029955.4(DCAF4L1):c.964G>C (p.Val322Leu)	DCAF4L1, LOC126807044 (V322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080299	NM_001029955.4(DCAF4L1):c.706G>A (p.Ala236Thr)	DCAF4L1, LOC126807044 (A236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080298	NM_001029955.4(DCAF4L1):c.36G>C (p.Glu12Asp)	DCAF4L1, LOC126807044 (E12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080297	NM_001029955.4(DCAF4L1):c.346G>C (p.Val116Leu)	DCAF4L1, LOC126807044 (V116L)	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 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 2556233	NM_001029955.4(DCAF4L1):c.692A>G (p.Gln231Arg)	DCAF4L1, LOC126807044 (Q231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554356	NM_001029955.4(DCAF4L1):c.962A>G (p.His321Arg)	DCAF4L1, LOC126807044 (H321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540336	NM_001029955.4(DCAF4L1):c.13A>G (p.Arg5Gly)	DCAF4L1, LOC126807044 (R5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539208	NM_001029955.4(DCAF4L1):c.902C>T (p.Ala301Val)	DCAF4L1, LOC126807044 (A301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493910	NM_001029955.4(DCAF4L1):c.1037C>T (p.Ala346Val)	DCAF4L1, LOC126807044 (A346V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475179	NM_001029955.4(DCAF4L1):c.703A>G (p.Thr235Ala)	DCAF4L1, LOC126807044 (T235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465477	NM_001029955.4(DCAF4L1):c.8C>T (p.Ala3Val)	DCAF4L1, LOC126807044 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369221	NM_001029955.4(DCAF4L1):c.950A>G (p.Tyr317Cys)	DCAF4L1, LOC126807044 (Y317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357974	NM_001029955.4(DCAF4L1):c.308G>A (p.Ser103Asn)	DCAF4L1, LOC126807044 (S103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305018	NM_001029955.4(DCAF4L1):c.1067A>G (p.Tyr356Cys)	DCAF4L1, LOC126807044 (Y356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301401	NM_001029955.4(DCAF4L1):c.760C>A (p.Arg254Ser)	DCAF4L1, LOC126807044 (R254S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236306	NM_001029955.4(DCAF4L1):c.1064C>G (p.Pro355Arg)	DCAF4L1, LOC126807044 (P355R)	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 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 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	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 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35