"Ambry Genetics"[submitter] AND "FAM13C"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091865	NM_198215.4(FAM13C):c.1671T>G (p.Asp557Glu)	FAM13C, PHYHIPL (D473E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282907	NM_198215.4(FAM13C):c.1586G>A (p.Arg529Gln)	FAM13C (R528Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524894	NM_198215.4(FAM13C):c.1556G>A (p.Arg519Gln)	FAM13C (R329Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277183	NM_198215.4(FAM13C):c.1447G>A (p.Glu483Lys)	FAM13C (E293K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265020	NM_198215.4(FAM13C):c.1312C>T (p.Pro438Ser)	FAM13C (P340S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481118	NM_198215.4(FAM13C):c.1276G>A (p.Asp426Asn)	FAM13C (D245N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540558	NM_198215.4(FAM13C):c.1187C>T (p.Thr396Ile)	FAM13C (T313I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091863	NM_198215.4(FAM13C):c.1177G>A (p.Ala393Thr)	FAM13C (A310T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527994	NM_198215.4(FAM13C):c.1163A>G (p.Glu388Gly)	FAM13C (E305G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593869	NM_198215.4(FAM13C):c.1142C>T (p.Pro381Leu)	FAM13C (P289L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299420	NM_198215.4(FAM13C):c.1136C>T (p.Ala379Val)	FAM13C (A287V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277182	NM_198215.4(FAM13C):c.1089G>T (p.Leu363Phe)	FAM13C (L271F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479713	NM_198215.4(FAM13C):c.1057A>C (p.Ser353Arg)	FAM13C (S261R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309334	NM_198215.4(FAM13C):c.1009C>T (p.Arg337Cys)	FAM13C (R245C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259200	NM_198215.4(FAM13C):c.949C>T (p.His317Tyr)	FAM13C (H225Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543998	NM_198215.4(FAM13C):c.946T>G (p.Ser316Ala)	FAM13C (S233A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523426	NM_198215.4(FAM13C):c.862C>G (p.Gln288Glu)	FAM13C (Q288E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091866	NM_198215.4(FAM13C):c.839G>A (p.Gly280Asp)	FAM13C (G188D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277184	NM_198215.4(FAM13C):c.594C>A (p.Asp198Glu)	FAM13C (D106E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407961	NM_198215.4(FAM13C):c.565G>A (p.Val189Met)	FAM13C (V106M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359350	NM_198215.4(FAM13C):c.463A>C (p.Ile155Leu)	FAM13C (I63L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337124	NM_198215.4(FAM13C):c.448G>C (p.Asp150His)	FAM13C (D150H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554909	NM_198215.4(FAM13C):c.301G>A (p.Gly101Arg)	FAM13C (G101R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275200	NM_198215.4(FAM13C):c.204G>C (p.Gln68His)	FAM13C (Q68H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212134	NM_198215.4(FAM13C):c.193C>T (p.Pro65Ser)	FAM13C (P65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548853	NM_198215.4(FAM13C):c.182C>T (p.Pro61Leu)	FAM13C (P61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091864	NM_198215.4(FAM13C):c.157G>T (p.Ala53Ser)	FAM13C (A53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493135	NM_198215.4(FAM13C):c.148G>A (p.Asp50Asn)	FAM13C (D50N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612876	NM_198215.4(FAM13C):c.73G>T (p.Asp25Tyr)	FAM13C (D25Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 29