"Ambry Genetics"[submitter] AND "ERCC6L2"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2459863	NM_020207.7(ERCC6L2):c.-12C>T	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3276309	NM_020207.7(ERCC6L2):c.-2G>C	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261799	NM_020207.7(ERCC6L2):c.4G>A (p.Asp2Asn)	ERCC6L2 (D2N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1034369	NM_020207.7(ERCC6L2):c.163T>G (p.Leu55Val)	ERCC6L2 (L55V)	Single nucleotide variant (missense variant +1 more)	Pancytopenia-developmental delay syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1479907	NM_020207.7(ERCC6L2):c.283C>G (p.Pro95Ala)	ERCC6L2 (P95A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1522327	NM_020207.7(ERCC6L2):c.333T>A (p.Asn111Lys)	ERCC6L2 (N111K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 728402	NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu)	ERCC6L2 (Q127E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3276312	NM_020207.7(ERCC6L2):c.384A>T (p.Arg128Ser)	ERCC6L2 (R128S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193436	NM_020207.7(ERCC6L2):c.500A>C (p.His167Pro)	ERCC6L2 (H167P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2265598	NM_020207.7(ERCC6L2):c.676G>A (p.Val226Ile)	ERCC6L2 (V226I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3090136	NM_020207.7(ERCC6L2):c.688A>T (p.Asn230Tyr)	ERCC6L2 (N230Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1986616	NM_020207.7(ERCC6L2):c.702T>G (p.Asn234Lys)	ERCC6L2 (N234K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1508784	NM_020207.7(ERCC6L2):c.725G>T (p.Arg242Met)	ERCC6L2 (R242M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1360299	NM_020207.7(ERCC6L2):c.862A>G (p.Met288Val)	ERCC6L2 (M288V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1374846	NM_020207.7(ERCC6L2):c.881A>T (p.Asn294Ile)	ERCC6L2 (N294I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2390459	NM_020207.7(ERCC6L2):c.1043G>T (p.Arg348Ile)	ERCC6L2 (R348I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1047574	NM_020207.7(ERCC6L2):c.1099T>C (p.Trp367Arg)	ERCC6L2 (W367R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 3090132	NM_020207.7(ERCC6L2):c.1112G>A (p.Arg371His)	ERCC6L2 (R371H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1375229	NM_020207.7(ERCC6L2):c.1130A>G (p.Lys377Arg)	ERCC6L2 (K377R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2244003	NM_020207.7(ERCC6L2):c.1159A>T (p.Met387Leu)	ERCC6L2 (M387L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3090133	NM_020207.7(ERCC6L2):c.1278A>C (p.Lys426Asn)	ERCC6L2 (K426N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1060784	NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe)	ERCC6L2 (V459F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1437558	NM_020207.7(ERCC6L2):c.1378G>A (p.Ala460Thr)	ERCC6L2 (A460T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191466	NM_020207.7(ERCC6L2):c.1391C>T (p.Ala464Val)	ERCC6L2 (A464V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2264603	NM_020207.7(ERCC6L2):c.1436G>T (p.Cys479Phe)	ERCC6L2 (C479F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3090134	NM_020207.7(ERCC6L2):c.1463A>C (p.Asp488Ala)	ERCC6L2 (D488A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1449431	NM_020207.7(ERCC6L2):c.1543C>A (p.Gln515Lys)	ERCC6L2 (Q515K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3276311	NM_020207.7(ERCC6L2):c.1631G>A (p.Cys544Tyr)	ERCC6L2 (C544Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1164800	NM_020207.7(ERCC6L2):c.1637C>T (p.Ala546Val)	ERCC6L2 (A546V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1034368	NM_020207.7(ERCC6L2):c.1772A>G (p.Asn591Ser)	ERCC6L2 (N591S)	Single nucleotide variant (missense variant +1 more)	Pancytopenia-developmental delay syndrome +2 more	GUncertain significance
Select item 2339719	NM_020207.7(ERCC6L2):c.1784C>G (p.Ala595Gly)	ERCC6L2 (A595G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1005241	NM_020207.7(ERCC6L2):c.1931G>A (p.Arg644Gln)	ERCC6L2 (R644Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 32