"ERCC6L2-related condition"[Disease/phenotype] AND "PreventionGenetics - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 731230	NM_020207.7(ERCC6L2):c.-13T>A	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 731231	NM_020207.7(ERCC6L2):c.-12C>A	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1166945	NM_020207.7(ERCC6L2):c.8C>A (p.Pro3Gln)	ERCC6L2 (P3Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 235252	NM_020207.7(ERCC6L2):c.21G>C (p.Gln7His)	ERCC6L2 (Q7H)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related condition +1 more	GBenign/Likely benign
Select item 3057172	NM_020207.7(ERCC6L2):c.24C>T (p.Pro8=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	ERCC6L2-related condition	GLikely benign
Select item 791302	NM_020207.7(ERCC6L2):c.375C>G (p.Asp125Glu)	ERCC6L2 (D125E)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related condition +1 more	GBenign/Likely benign
Select item 3043378	NM_020207.7(ERCC6L2):c.472-3C>T	ERCC6L2	Single nucleotide variant (intron variant)	ERCC6L2-related condition	GLikely benign
Select item 729168	NM_020207.7(ERCC6L2):c.1095T>C (p.Ser365=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	ERCC6L2-related condition +1 more	GBenign/Likely benign
Select item 791303	NM_020207.7(ERCC6L2):c.1140G>C (p.Leu380Phe)	ERCC6L2 (L380F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1471332	NM_020207.7(ERCC6L2):c.1157G>A (p.Arg386Gln)	ERCC6L2 (R386Q)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related condition +1 more	GUncertain significance
Select item 1628574	NM_020207.7(ERCC6L2):c.1158+10G>A	ERCC6L2	Single nucleotide variant (intron variant)	ERCC6L2-related condition +1 more	GLikely benign
Select item 2634703	NM_020207.7(ERCC6L2):c.1220_1221del (p.Glu407fs)	ERCC6L2 (E407fs)	Microsatellite (frameshift variant +1 more)	ERCC6L2-related condition	GPathogenic
Select item 1109513	NM_020207.7(ERCC6L2):c.1293T>C (p.Cys431=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	ERCC6L2-related condition +1 more	GLikely benign
Select item 1060784	NM_020207.7(ERCC6L2):c.1375G>T (p.Val459Phe)	ERCC6L2 (V459F)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2193142	NM_020207.7(ERCC6L2):c.1425C>T (p.Ile475=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 718346	NM_020207.7(ERCC6L2):c.1605+8C>T	ERCC6L2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1164800	NM_020207.7(ERCC6L2):c.1637C>T (p.Ala546Val)	ERCC6L2 (A546V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3029445	NM_020207.7(ERCC6L2):c.1695G>C (p.Lys565Asn)	ERCC6L2 (K565N)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related condition	GUncertain significance
Select item 1486597	NM_020207.7(ERCC6L2):c.2554G>A (p.Asp852Asn)	ERCC6L2 (D852N)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related condition +1 more	GUncertain significance
Select item 1170221	NM_020207.7(ERCC6L2):c.2811A>G (p.Val937=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1053992	NM_020207.7(ERCC6L2):c.2855G>A (p.Arg952Lys)	ERCC6L2 (R952K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1168766	NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu)	ERCC6L2 (V1026L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1168767	NM_020207.7(ERCC6L2):c.3193A>G (p.Ile1065Val)	ERCC6L2 (I1065V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1174156	NM_020207.7(ERCC6L2):c.3300_3303del (p.Asn1100fs)	ERCC6L2 (N1100fs)	Deletion (frameshift variant +1 more)	ERCC6L2-related condition	GLikely pathogenic
Select item 1518659	NM_020207.7(ERCC6L2):c.3311C>T (p.Ser1104Leu)	ERCC6L2 (S1104L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2633689	NM_020207.7(ERCC6L2):c.3397_3428del (p.Lys1132_Ala1133insTer)	ERCC6L2	Deletion (nonsense +1 more)	ERCC6L2-related condition	GLikely pathogenic
Select item 3053945	NM_020207.7(ERCC6L2):c.3493-5T>C	ERCC6L2	Single nucleotide variant (intron variant)	ERCC6L2-related condition	GLikely benign
Select item 2960942	NM_020207.7(ERCC6L2):c.3750C>T (p.Ala1250=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	ERCC6L2-related condition +1 more	GLikely benign
Select item 1054208	NM_020207.7(ERCC6L2):c.4090A>C (p.Thr1364Pro)	ERCC6L2 (T1364P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1337477	NM_020207.7(ERCC6L2):c.4128C>A (p.Ser1376=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	ERCC6L2-related condition +2 more	GLikely benign
Select item 1633820	NM_020207.7(ERCC6L2):c.4129G>A (p.Glu1377Lys)	ERCC6L2 (E1377K)	Single nucleotide variant (missense variant +2 more)	ERCC6L2-related condition +1 more	GLikely benign
Select item 1635445	NM_020207.7(ERCC6L2):c.4172C>T (p.Thr1391Ile)	ERCC6L2 (T1391I)	Single nucleotide variant (missense variant +2 more)	ERCC6L2-related condition +1 more	GLikely benign
Select item 1165817	NM_020207.7(ERCC6L2):c.4294A>G (p.Asn1432Asp)	ERCC6L2 (N1432D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1165818	NM_020207.7(ERCC6L2):c.4601T>G (p.Phe1534Cys)	ERCC6L2 (F1534C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34