"Ambry Genetics"[submitter] AND "PRAMEF18"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218206	NM_001100631.2(PRAMEF22):c.1409T>C (p.Phe470Ser)	PRAMEF18 (F470S +1 more)	Variation (no sequence alteration +2 more)	not specified	GLikely benign
Select item 2465405	NM_001099850.2(PRAMEF18):c.1386G>A (p.Thr462=)	PRAMEF18	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2346543	NM_001099850.2(PRAMEF18):c.1344= (p.Lys448=)	PRAMEF18	Variation (no sequence alteration +1 more)	not specified	GLikely benign
Select item 2221764	NM_001099850.2(PRAMEF18):c.1343A>G (p.Lys448Arg)	PRAMEF18 (K448R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528644	NM_001099850.2(PRAMEF18):c.1339C>A (p.Pro447Thr)	PRAMEF18 (P447T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375038	NM_001099850.2(PRAMEF18):c.1316G>A (p.Arg439His)	PRAMEF18 (R441H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349661	NM_001100631.2(PRAMEF22):c.1280T= (p.Leu427=)	PRAMEF18 (S429L)	Variation (no sequence alteration +1 more)	not specified	GLikely benign
Select item 3218205	NM_001100631.2(PRAMEF22):c.1261A= (p.Asn421=)	PRAMEF18 (D423N)	Variation (no sequence alteration +1 more)	not specified	GLikely benign
Select item 3218188	NM_001099850.2(PRAMEF18):c.1210C>A (p.Leu404Met)	PRAMEF18 (L404M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213211	NM_001100631.2(PRAMEF22):c.1178C= (p.Ala393=)	PRAMEF18 (G395A)	Variation (no sequence alteration +1 more)	not specified	GLikely benign
Select item 3218187	NM_001099850.2(PRAMEF18):c.1166C>T (p.Thr389Met)	PRAMEF18 (T389M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238055	NM_001099850.2(PRAMEF18):c.1166C>G (p.Thr389Arg)	PRAMEF18 (T389R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407212	NM_001099850.2(PRAMEF18):c.1123C>T (p.Arg375Cys)	PRAMEF18 (R375C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226515	NM_001100631.2(PRAMEF22):c.1123C= (p.Arg375=)	PRAMEF18 (C377R)	Variation (no sequence alteration +1 more)	not specified	GLikely benign
Select item 2523406	NM_001099850.2(PRAMEF18):c.1105A>G (p.Ile369Val)	PRAMEF18 (I369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511744	NM_001099850.2(PRAMEF18):c.1082T>C (p.Ile361Thr)	PRAMEF18 (I363T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218186	NM_001099850.2(PRAMEF18):c.1064T>C (p.Phe355Ser)	PRAMEF18 (F355S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457785	NM_001099850.2(PRAMEF18):c.1016C>A (p.Pro339His)	PRAMEF18 (P341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218185	NM_001099850.2(PRAMEF18):c.1006C>T (p.Arg336Cys)	PRAMEF18 (R338C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218189	NM_001099850.2(PRAMEF18):c.998G>A (p.Arg333His)	PRAMEF18 (R333H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477212	NM_001099850.2(PRAMEF18):c.950C>T (p.Pro317Leu)	PRAMEF18 (P317L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349064	NM_001099850.2(PRAMEF18):c.898T>G (p.Leu300Val)	PRAMEF18 (L302V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387690	NM_001099850.2(PRAMEF18):c.879C>G (p.Ser293Arg)	PRAMEF18 (S293R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341905	NM_001100631.2(PRAMEF22):c.812T>G (p.Met271Arg)	PRAMEF18 (M273R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2514901	NM_001100631.2(PRAMEF22):c.721G>A (p.Asp241Asn)	PRAMEF18 (D241N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510317	NM_001100631.2(PRAMEF22):c.695G>A (p.Arg232Lys)	PRAMEF18 (R234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207584	NM_001100631.2(PRAMEF22):c.641A>G (p.Asn214Ser)	PRAMEF18 (N216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215069	NM_001100631.2(PRAMEF22):c.640A>G (p.Asn214Asp)	PRAMEF18 (N216D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218209	NM_001100631.2(PRAMEF22):c.610C>T (p.Pro204Ser)	PRAMEF18 (P204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342502	NM_001100631.2(PRAMEF22):c.610C>G (p.Pro204Ala)	PRAMEF18 (P206A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541019	NM_001100631.2(PRAMEF22):c.590A>G (p.Asn197Ser)	PRAMEF18 (N197S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513898	NM_001100631.2(PRAMEF22):c.573C>A (p.Ser191Arg)	PRAMEF18 (S191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379121	NM_001100631.2(PRAMEF22):c.568A>G (p.Met190Val)	PRAMEF18 (M190V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286695	NM_001100631.2(PRAMEF22):c.550A>G (p.Lys184Glu)	PRAMEF18 (K186E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523045	NM_001100631.2(PRAMEF22):c.527G>T (p.Gly176Val)	PRAMEF18 (G178V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523044	NM_001100631.2(PRAMEF22):c.526G>A (p.Gly176Ser)	PRAMEF18 (G176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218207	NM_001100631.2(PRAMEF22):c.511G>A (p.Val171Met)	PRAMEF18 (V171M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226930	NM_001100631.2(PRAMEF22):c.511G>T (p.Val171Leu)	PRAMEF18 (V171L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289407	NM_001100631.2(PRAMEF22):c.503C>G (p.Ser168Cys)	PRAMEF18 (S168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590391	NM_001099850.2(PRAMEF18):c.478A>G (p.Met160Val)	PRAMEF18 (M162V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239798	NM_001100631.2(PRAMEF22):c.440T>G (p.Leu147Trp)	PRAMEF18 (L149W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590028	NM_001099850.2(PRAMEF18):c.401C>T (p.Thr134Ile)	PRAMEF18 (T134I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249200	NM_001100631.2(PRAMEF22):c.356C>T (p.Ala119Val)	PRAMEF18 (A121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 43