FAM114A2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	LOC129995100, LOC129995101 +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	LINC02159, LINC02202 +279 more	Copy number loss	See cases	GPathogenic
Select item 2460603	NM_018691.4(FAM114A2):c.1508T>C (p.Leu503Ser)	FAM114A2 (L433S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091688	NM_018691.4(FAM114A2):c.1493G>T (p.Gly498Val)	FAM114A2 (G428V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2290476	NM_018691.4(FAM114A2):c.1392C>G (p.Asn464Lys)	FAM114A2 (N394K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091687	NM_018691.4(FAM114A2):c.1346A>G (p.Asp449Gly)	FAM114A2 (D449G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091686	NM_018691.4(FAM114A2):c.1249C>T (p.Leu417Phe)	FAM114A2 (L347F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520845	NM_018691.4(FAM114A2):c.1138C>T (p.Arg380Trp)	FAM114A2 (R380W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362232	NM_018691.4(FAM114A2):c.1127C>T (p.Ala376Val)	FAM114A2 (A376V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271685	NM_018691.4(FAM114A2):c.989C>T (p.Ala330Val)	FAM114A2 (A260V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225085	NM_018691.4(FAM114A2):c.970T>G (p.Ser324Ala)	FAM114A2 (S324A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553148	NM_018691.4(FAM114A2):c.958C>G (p.Leu320Val)	FAM114A2 (L250V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091696	NM_018691.4(FAM114A2):c.952T>C (p.Ser318Pro)	FAM114A2 (S248P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407666	NM_018691.4(FAM114A2):c.940A>G (p.Thr314Ala)	FAM114A2 (T244A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591568	NM_018691.4(FAM114A2):c.937A>G (p.Ile313Val)	FAM114A2 (I313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472292	NM_018691.4(FAM114A2):c.832A>T (p.Thr278Ser)	FAM114A2 (T208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370392	NM_018691.4(FAM114A2):c.685G>A (p.Val229Met)	FAM114A2 (V229M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091695	NM_018691.4(FAM114A2):c.646A>G (p.Lys216Glu)	FAM114A2 (K216E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091694	NM_018691.4(FAM114A2):c.619A>G (p.Thr207Ala)	FAM114A2 (T137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267807	NM_018691.4(FAM114A2):c.566C>T (p.Ala189Val)	FAM114A2 (A119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091693	NM_018691.4(FAM114A2):c.553A>G (p.Met185Val)	FAM114A2 (M185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226741	NM_018691.4(FAM114A2):c.515G>A (p.Gly172Glu)	FAM114A2 (G172E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304796	NM_018691.4(FAM114A2):c.508A>G (p.Ile170Val)	FAM114A2 (I100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091692	NM_018691.4(FAM114A2):c.416C>T (p.Ala139Val)	FAM114A2 (A139V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288622	NM_018691.4(FAM114A2):c.364G>A (p.Gly122Ser)	FAM114A2 (G122S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3091691	NM_018691.4(FAM114A2):c.304A>G (p.Thr102Ala)	FAM114A2 (T102A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256566	NM_018691.4(FAM114A2):c.302C>T (p.Ala101Val)	FAM114A2 (A101V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395317	NM_018691.4(FAM114A2):c.290C>T (p.Ser97Leu)	FAM114A2 (S97L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602958	NM_018691.4(FAM114A2):c.281C>T (p.Ser94Phe)	FAM114A2 (S94F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091690	NM_018691.4(FAM114A2):c.213T>G (p.Asp71Glu)	FAM114A2 (D71E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3091689	NM_018691.4(FAM114A2):c.193A>G (p.Lys65Glu)	FAM114A2 (K65E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275044	NM_018691.4(FAM114A2):c.181C>G (p.Leu61Val)	FAM114A2 (L61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383390	NM_018691.4(FAM114A2):c.149G>A (p.Arg50Gln)	FAM114A2 (R50Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408080	NM_018691.4(FAM114A2):c.84G>T (p.Lys28Asn)	FAM114A2 (K28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543233	NM_018691.4(FAM114A2):c.73G>A (p.Glu25Lys)	FAM114A2 (E25K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1807966	GRCh37/hg19 5q33.2(chr5:153030768-153594725)x1	FAM114A2, GALNT10 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	MBLAC2, MCC +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic

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Items: 47