"Ambry Genetics"[submitter] AND "FAM43A"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2215903	NM_153690.5(FAM43A):c.40G>C (p.Glu14Gln)	FAM43A (E14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092418	NM_153690.5(FAM43A):c.52C>G (p.Arg18Gly)	FAM43A (R18G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092417	NM_153690.5(FAM43A):c.116C>T (p.Ala39Val)	FAM43A (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260900	NM_153690.5(FAM43A):c.132A>T (p.Glu44Asp)	FAM43A (E44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310383	NM_153690.5(FAM43A):c.136G>A (p.Ala46Thr)	FAM43A (A46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319487	NM_153690.5(FAM43A):c.179A>C (p.Lys60Thr)	FAM43A (K60T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277430	NM_153690.5(FAM43A):c.205A>G (p.Thr69Ala)	FAM43A (T69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306066	NM_153690.5(FAM43A):c.259G>A (p.Gly87Ser)	FAM43A (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277427	NM_153690.5(FAM43A):c.337G>A (p.Val113Met)	FAM43A (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277428	NM_153690.5(FAM43A):c.395G>C (p.Gly132Ala)	FAM43A (G132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309350	NM_153690.5(FAM43A):c.430G>C (p.Val144Leu)	FAM43A (V144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092419	NM_153690.5(FAM43A):c.554C>T (p.Ala185Val)	FAM43A (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594785	NM_153690.5(FAM43A):c.581A>G (p.Asn194Ser)	FAM43A (N194S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2278306	NM_153690.5(FAM43A):c.718C>T (p.Pro240Ser)	FAM43A (P240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092420	NM_153690.5(FAM43A):c.757A>C (p.Ile253Leu)	FAM43A (I253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092421	NM_153690.5(FAM43A):c.814G>A (p.Glu272Lys)	FAM43A (E272K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092422	NM_153690.5(FAM43A):c.842A>T (p.Glu281Val)	FAM43A (E281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270210	NM_153690.5(FAM43A):c.854G>T (p.Arg285Leu)	FAM43A (R285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597538	NM_153690.5(FAM43A):c.880G>C (p.Glu294Gln)	FAM43A (E294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607432	NM_153690.5(FAM43A):c.976G>A (p.Gly326Arg)	FAM43A, LOC129938214 (G326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554667	NM_153690.5(FAM43A):c.997G>C (p.Gly333Arg)	FAM43A, LOC129938214 (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327677	NM_153690.5(FAM43A):c.1007C>T (p.Ala336Val)	FAM43A, LOC129938214 (A336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541698	NM_153690.5(FAM43A):c.1009G>C (p.Gly337Arg)	FAM43A, LOC129938214 (G337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508227	NM_153690.5(FAM43A):c.1031G>A (p.Gly344Asp)	FAM43A, LOC129938214 (G344D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277426	NM_153690.5(FAM43A):c.1104C>G (p.Asp368Glu)	FAM43A, LOC129938214 (D368E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558993	NM_153690.5(FAM43A):c.1163G>A (p.Gly388Asp)	FAM43A, LOC129938214 (G388D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252599	NM_153690.5(FAM43A):c.1193C>G (p.Pro398Arg)	FAM43A, LOC129938214 (P398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528162	NM_153690.5(FAM43A):c.1232A>G (p.Gln411Arg)	FAM43A (Q411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28