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

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313597	NM_152222.2(RELT):c.22C>T (p.Arg8Trp)	RELT (R8W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3152959	NM_152222.2(RELT):c.23G>A (p.Arg8Gln)	RELT (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262761	NM_152222.2(RELT):c.52C>T (p.Pro18Ser)	RELT (P18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496008	NM_152222.2(RELT):c.53C>G (p.Pro18Arg)	RELT (P18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470143	NM_152222.2(RELT):c.53C>T (p.Pro18Leu)	RELT (P18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224265	NM_152222.2(RELT):c.79A>G (p.Thr27Ala)	RELT (T27A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275922	NM_152222.2(RELT):c.82A>C (p.Thr28Pro)	RELT (T28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360341	NM_152222.2(RELT):c.115G>C (p.Asp39His)	RELT (D39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152958	NM_152222.2(RELT):c.209G>T (p.Arg70Leu)	RELT (R70L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532012	NM_152222.2(RELT):c.232G>A (p.Glu78Lys)	RELT (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313598	NM_152222.2(RELT):c.407C>T (p.Ala136Val)	RELT (A136V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377336	NM_152222.2(RELT):c.415A>T (p.Ser139Cys)	RELT (S139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618581	NM_152222.2(RELT):c.421G>A (p.Gly141Ser)	RELT (G141S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152960	NM_152222.2(RELT):c.440C>T (p.Pro147Leu)	RELT (P147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152961	NM_152222.2(RELT):c.491C>T (p.Ala164Val)	RELT (A148V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208022	NM_152222.2(RELT):c.514T>C (p.Phe172Leu)	RELT (F172L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454853	NM_152222.2(RELT):c.562C>T (p.Arg188Trp)	RELT (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152962	NM_152222.2(RELT):c.563G>A (p.Arg188Gln)	RELT (R188Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478971	NM_152222.2(RELT):c.607C>T (p.Pro203Ser)	RELT (P203S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595864	NM_152222.2(RELT):c.635C>G (p.Pro212Arg)	RELT (P212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382917	NM_152222.2(RELT):c.644G>A (p.Arg215Gln)	RELT (R215Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404471	NM_152222.2(RELT):c.676G>C (p.Val226Leu)	RELT (V226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388334	NM_152222.2(RELT):c.716C>T (p.Ala239Val)	RELT (A239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520743	NM_152222.2(RELT):c.800C>T (p.Ala267Val)	RELT (A267V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553933	NM_152222.2(RELT):c.805C>T (p.Pro269Ser)	RELT (P269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307026	NM_152222.2(RELT):c.848C>T (p.Thr283Ile)	RELT (T283I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337902	NM_152222.2(RELT):c.905A>G (p.Lys302Arg)	RELT (K302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349928	NM_152222.2(RELT):c.997G>A (p.Gly333Arg)	RELT (G333R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3152957	NM_152222.2(RELT):c.1052G>A (p.Arg351His)	RELT (R265H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313599	NM_152222.2(RELT):c.1057G>A (p.Ala353Thr)	RELT (A353T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521248	NM_152222.2(RELT):c.1168C>G (p.Pro390Ala)	RELT (P390A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2462620	NM_152222.2(RELT):c.1168C>A (p.Pro390Thr)	RELT (P390T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2397158	NM_152222.2(RELT):c.1204C>T (p.Arg402Cys)	RELT (R402C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33