FAM114A1[gene] - ClinVar

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Items: 51

	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 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 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 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2621569	NM_138389.4(FAM114A1):c.7G>A (p.Asp3Asn)	FAM114A1 (D3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459585	NM_138389.4(FAM114A1):c.28G>A (p.Ala10Thr)	FAM114A1 (A10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484639	NM_138389.4(FAM114A1):c.94G>C (p.Val32Leu)	FAM114A1 (V32L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314960	NM_138389.4(FAM114A1):c.122A>G (p.His41Arg)	FAM114A1 (H41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366624	NM_138389.4(FAM114A1):c.196A>G (p.Ile66Val)	FAM114A1 (I66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399715	NM_138389.4(FAM114A1):c.197T>C (p.Ile66Thr)	FAM114A1 (I66T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367674	NM_138389.4(FAM114A1):c.319G>A (p.Glu107Lys)	FAM114A1 (E107K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091680	NM_138389.4(FAM114A1):c.394T>G (p.Ser132Ala)	FAM114A1 (I6S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2400868	NM_138389.4(FAM114A1):c.418T>A (p.Ser140Thr)	FAM114A1 (S140T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2367201	NM_138389.4(FAM114A1):c.449C>T (p.Thr150Met)	FAM114A1 (T150M +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091681	NM_138389.4(FAM114A1):c.580G>A (p.Ala194Thr)	FAM114A1 (A67T +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3091682	NM_138389.4(FAM114A1):c.616C>T (p.Arg206Trp)	FAM114A1 (R79W +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2220168	NM_138389.4(FAM114A1):c.617G>A (p.Arg206Gln)	FAM114A1 (R206Q +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091684	NM_138389.4(FAM114A1):c.649C>G (p.Gln217Glu)	FAM114A1 (Q10E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606323	NM_138389.4(FAM114A1):c.659G>A (p.Gly220Asp)	FAM114A1 (G218D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091685	NM_138389.4(FAM114A1):c.703G>C (p.Gly235Arg)	FAM114A1 (G28R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 92026	NM_138389.4(FAM114A1):c.704G>C (p.Gly235Ala)	FAM114A1 (G235A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2398537	NM_138389.4(FAM114A1):c.740C>T (p.Pro247Leu)	FAM114A1 (P245L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479201	NM_138389.4(FAM114A1):c.794T>C (p.Met265Thr)	FAM114A1 (M265T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384323	NM_138389.4(FAM114A1):c.845C>T (p.Thr282Met)	FAM114A1 (T280M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538174	NM_138389.4(FAM114A1):c.863A>G (p.His288Arg)	FAM114A1 (H286R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236263	NM_138389.4(FAM114A1):c.961G>T (p.Ala321Ser)	FAM114A1 (A321S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266490	NM_138389.4(FAM114A1):c.1036G>A (p.Glu346Lys)	FAM114A1 (E148K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611215	NM_138389.4(FAM114A1):c.1222G>A (p.Ala408Thr)	FAM114A1 (A201T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529998	NM_138389.4(FAM114A1):c.1350T>G (p.Ser450Arg)	FAM114A1 (S243R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264354	NM_138389.4(FAM114A1):c.1355C>G (p.Ala452Gly)	FAM114A1 (A325G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654726	NM_138389.4(FAM114A1):c.1509G>A (p.Lys503=)	FAM114A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2218968	NM_138389.4(FAM114A1):c.1525A>G (p.Thr509Ala)	FAM114A1 (T382A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508397	NM_138389.4(FAM114A1):c.1649A>G (p.Gln550Arg)	FAM114A1 (Q343R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291517	NM_138389.4(FAM114A1):c.1671T>A (p.Ser557Arg)	FAM114A1 (S539R +5 more)	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 2427542	NC_000004.11:g.(?_38765721)_(39478735_?)dup	FAM114A1, KLB +9 more	Duplication	not provided	GUncertain significance
Select item 1809112	GRCh37/hg19 4p14(chr4:38589565-38926476)x3	FAM114A1, KLF3 +3 more	Copy number gain	not provided	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 1527080	GRCh37/hg19 4p14(chr4:38717326-39382906)	FAM114A1, KLHL5 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1411128	NC_000004.11:g.(?_38765721)_(41750627_?)dup	NSUN7, PDS5A +22 more	Duplication	Lipoic acid synthetase deficiency	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 562906	GRCh37/hg19 4p14(chr4:38723586-39382906)x3	FAM114A1, KLHL5 +6 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)	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 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 51