FAM53C[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2285294	NM_016605.3(FAM53C):c.181T>C (p.Phe61Leu)	FAM53C (F51L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491114	NM_016605.3(FAM53C):c.229C>T (p.His77Tyr)	FAM53C (H67Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462967	NM_016605.3(FAM53C):c.244A>G (p.Ser82Gly)	FAM53C (S82G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361237	NM_016605.3(FAM53C):c.247C>T (p.Arg83Trp)	FAM53C (R83W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092502	NM_016605.3(FAM53C):c.248G>A (p.Arg83Gln)	FAM53C (R83Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3338184	NM_016605.3(FAM53C):c.256dup (p.Ser86fs)	FAM53C (S76fs +1 more)	Duplication (frameshift variant +1 more)	Autism	GUncertain significance
Select item 2491672	NM_016605.3(FAM53C):c.260C>A (p.Pro87His)	FAM53C (P87H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395845	NM_016605.3(FAM53C):c.355C>T (p.Arg119Cys)	FAM53C (R109C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257518	NM_016605.3(FAM53C):c.361C>T (p.Leu121Phe)	FAM53C (L111F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383574	NM_016605.3(FAM53C):c.385C>T (p.Arg129Cys)	FAM53C (R129C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 91932	NM_016605.3(FAM53C):c.490C>T (p.Pro164Ser)	FAM53C (P164S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3277477	NM_016605.3(FAM53C):c.495G>T (p.Lys165Asn)	FAM53C (K165N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208994	NM_016605.3(FAM53C):c.497G>A (p.Arg166Gln)	FAM53C (R156Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092503	NM_016605.3(FAM53C):c.566A>G (p.Tyr189Cys)	FAM53C (Y179C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517195	NM_016605.3(FAM53C):c.716C>T (p.Pro239Leu)	FAM53C (P229L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495077	NM_016605.3(FAM53C):c.731T>C (p.Phe244Ser)	FAM53C (F234S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612021	NM_016605.3(FAM53C):c.737C>T (p.Pro246Leu)	FAM53C (P246L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092504	NM_016605.3(FAM53C):c.796C>T (p.Arg266Cys)	FAM53C (R266C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397094	NM_016605.3(FAM53C):c.881G>A (p.Arg294Gln)	FAM53C (R284Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359439	NM_016605.3(FAM53C):c.884G>A (p.Arg295His)	FAM53C (R295H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269348	NM_016605.3(FAM53C):c.962G>A (p.Arg321Gln)	FAM53C (R110Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277476	NM_016605.3(FAM53C):c.1015C>G (p.Leu339Val)	FAM53C (L128V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480477	NM_016605.3(FAM53C):c.1025C>T (p.Ser342Phe)	FAM53C (S131F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092500	NM_016605.3(FAM53C):c.1064A>T (p.Glu355Val)	FAM53C (E345V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092501	NM_016605.3(FAM53C):c.1103G>A (p.Arg368Gln)	FAM53C (R368Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 25