FAM98C[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3038918	NM_174905.4(FAM98C):c.-2T>C	FAM98C, LOC130064347	Single nucleotide variant (5 prime UTR variant)	FAM98C-related disorder	GLikely benign
Select item 2273152	NM_174905.4(FAM98C):c.25T>C (p.Trp9Arg)	FAM98C, LOC130064347 (W9R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374079	NM_174905.4(FAM98C):c.47A>G (p.Gln16Arg)	FAM98C, LOC130064347 (Q16R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092745	NM_174905.4(FAM98C):c.64G>C (p.Gly22Arg)	FAM98C (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040624	NM_174905.4(FAM98C):c.65+3A>G	FAM98C	Single nucleotide variant (intron variant)	FAM98C-related disorder	GLikely benign
Select item 2391944	NM_174905.4(FAM98C):c.77T>A (p.Val26Asp)	FAM98C (V26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489798	NM_174905.4(FAM98C):c.85G>A (p.Ala29Thr)	FAM98C (A29T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271543	NM_174905.4(FAM98C):c.97G>A (p.Gly33Ser)	FAM98C (G33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542072	NM_174905.4(FAM98C):c.106T>C (p.Cys36Arg)	FAM98C (C36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380831	NM_174905.4(FAM98C):c.184G>A (p.Ala62Thr)	FAM98C, LOC130064348 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059360	NM_174905.4(FAM98C):c.190G>A (p.Ala64Thr)	FAM98C, LOC130064348 (A64T)	Single nucleotide variant (missense variant)	FAM98C-related disorder	GBenign
Select item 3277583	NM_174905.4(FAM98C):c.205G>T (p.Ala69Ser)	FAM98C, LOC130064348 (A69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033480	NM_174905.4(FAM98C):c.309G>T (p.Ala103=)	FAM98C	Single nucleotide variant (synonymous variant)	FAM98C-related disorder	GLikely benign
Select item 3057083	NM_174905.4(FAM98C):c.322G>A (p.Glu108Lys)	FAM98C (E108K)	Single nucleotide variant (missense variant)	FAM98C-related disorder	GBenign
Select item 2343080	NM_174905.4(FAM98C):c.395G>A (p.Arg132His)	FAM98C (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277584	NM_174905.4(FAM98C):c.410C>G (p.Pro137Arg)	FAM98C (P137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322647	NM_174905.4(FAM98C):c.433G>A (p.Glu145Lys)	FAM98C (E145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033202	NM_174905.4(FAM98C):c.479C>T (p.Thr160Ile)	FAM98C (T160I)	Single nucleotide variant (missense variant)	FAM98C-related disorder	GBenign
Select item 3092744	NM_174905.4(FAM98C):c.543G>T (p.Glu181Asp)	FAM98C (E181D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458390	NM_174905.4(FAM98C):c.623C>T (p.Ala208Val)	FAM98C (A208V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034905	NM_174905.4(FAM98C):c.631T>C (p.Trp211Arg)	FAM98C (W211R)	Single nucleotide variant (missense variant +1 more)	FAM98C-related disorder	GLikely benign
Select item 2492226	NM_174905.4(FAM98C):c.637G>A (p.Ala213Thr)	FAM98C (A187T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750546	NM_174905.4(FAM98C):c.639G>A (p.Ala213=)	FAM98C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211778	NM_174905.4(FAM98C):c.676C>T (p.Arg226Cys)	FAM98C (R226C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515483	NM_174905.4(FAM98C):c.685C>T (p.Arg229Cys)	FAM98C (R203C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686404	NM_174905.4(FAM98C):c.691CTC[2] (p.Leu233del)	FAM98C (L207del +1 more)	Microsatellite (inframe_deletion)	not specified	GLikely benign
Select item 2367745	NM_174905.4(FAM98C):c.704G>A (p.Arg235His)	FAM98C (R209H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277580	NM_174905.4(FAM98C):c.706C>T (p.Leu236Phe)	FAM98C (L236F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060032	NM_174905.4(FAM98C):c.719C>A (p.Thr240Lys)	FAM98C (T214K +1 more)	Single nucleotide variant (missense variant)	FAM98C-related disorder	GBenign
Select item 2509681	NM_174905.4(FAM98C):c.742C>T (p.Arg248Trp)	FAM98C (R248W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734946	NM_174905.4(FAM98C):c.751-2A>C	FAM98C	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GBenign
Select item 3277579	NM_174905.4(FAM98C):c.763G>A (p.Ala255Thr)	FAM98C (A255T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277582	NM_174905.4(FAM98C):c.812C>T (p.Ser271Leu)	FAM98C (S271L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 266079	NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)	FAM98C (R282*)	Single nucleotide variant (nonsense +1 more)	Asphyxiating thoracic dystrophy 3 +1 more	GLikely pathogenic
Select item 2218699	NM_174905.4(FAM98C):c.865G>A (p.Val289Ile)	FAM98C (V289I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2561177	NM_174905.4(FAM98C):c.869C>T (p.Pro290Leu)	FAM98C (P290L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092747	NM_174905.4(FAM98C):c.904T>A (p.Cys302Ser)	FAM98C (C302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284649	NM_174905.4(FAM98C):c.995G>A (p.Arg332Gln)	FAM98C (R250Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750592	NM_174905.4(FAM98C):c.1020T>A (p.Cys340Ter)	FAM98C (C258* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3059298	NM_174905.4(FAM98C):c.1030AAG[7] (p.Lys349_Ter350insLys)	FAM98C	Microsatellite	FAM98C-related disorder	GBenign
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 50