ClinVar for Gene (Select 126807044) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2554356	NM_001029955.4(DCAF4L1):c.962A>G (p.His321Arg)	DCAF4L1, LOC126807044 (H321R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540336	NM_001029955.4(DCAF4L1):c.13A>G (p.Arg5Gly)	DCAF4L1, LOC126807044 (R5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539208	NM_001029955.4(DCAF4L1):c.902C>T (p.Ala301Val)	DCAF4L1, LOC126807044 (A301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493910	NM_001029955.4(DCAF4L1):c.1037C>T (p.Ala346Val)	DCAF4L1, LOC126807044 (A346V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475179	NM_001029955.4(DCAF4L1):c.703A>G (p.Thr235Ala)	DCAF4L1, LOC126807044 (T235A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465477	NM_001029955.4(DCAF4L1):c.8C>T (p.Ala3Val)	DCAF4L1, LOC126807044 (A3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369221	NM_001029955.4(DCAF4L1):c.950A>G (p.Tyr317Cys)	DCAF4L1, LOC126807044 (Y317C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357974	NM_001029955.4(DCAF4L1):c.308G>A (p.Ser103Asn)	DCAF4L1, LOC126807044 (S103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305018	NM_001029955.4(DCAF4L1):c.1067A>G (p.Tyr356Cys)	DCAF4L1, LOC126807044 (Y356C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301401	NM_001029955.4(DCAF4L1):c.760C>A (p.Arg254Ser)	DCAF4L1, LOC126807044 (R254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236306	NM_001029955.4(DCAF4L1):c.1064C>G (p.Pro355Arg)	DCAF4L1, LOC126807044 (P355R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	APBB2, ATP10D +171 more	Copy number gain	See cases	GPathogenic