Related gene-specific medical variations for Gene (Select 54821) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276308	NM_017669.4(ERCC6L):c.749G>A (p.Ser250Asn)	ERCC6L, PIN4 (S127N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276307	NM_017669.4(ERCC6L):c.2588A>G (p.Glu863Gly)	ERCC6L, PIN4 (E863G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3276306	NM_017669.4(ERCC6L):c.2702T>C (p.Ile901Thr)	ERCC6L, PIN4 (I901T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090130	NM_017669.4(ERCC6L):c.3493C>T (p.Pro1165Ser)	ERCC6L, PIN4 (P1165S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090129	NM_017669.4(ERCC6L):c.2519A>G (p.Asn840Ser)	ERCC6L, PIN4 (N717S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090128	NM_017669.4(ERCC6L):c.211G>A (p.Ala71Thr)	ERCC6L, PIN4 (A71T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3090126	NM_017669.4(ERCC6L):c.1123C>T (p.Pro375Ser)	ERCC6L, PIN4 (P252S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660909	NM_017669.4(ERCC6L):c.1027G>C (p.Ala343Pro)	ERCC6L, PIN4 (A220P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660908	NM_017669.4(ERCC6L):c.3297T>A (p.Leu1099=)	ERCC6L, PIN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660907	NM_017669.4(ERCC6L):c.3408C>T (p.Gly1136=)	ERCC6L, PIN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618463	NM_017669.4(ERCC6L):c.739A>G (p.Ile247Val)	ERCC6L, PIN4 (I124V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2591669	NM_017669.4(ERCC6L):c.3700C>T (p.Pro1234Ser)	ERCC6L, PIN4 (P1111S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524720	NM_017669.4(ERCC6L):c.214G>A (p.Glu72Lys)	ERCC6L, PIN4 (E72K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482991	NM_017669.4(ERCC6L):c.3156A>T (p.Gln1052His)	ERCC6L, PIN4 (Q1052H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482269	NM_017669.4(ERCC6L):c.2825C>A (p.Pro942His)	ERCC6L, PIN4 (P819H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477331	NM_017669.4(ERCC6L):c.2710G>C (p.Glu904Gln)	ERCC6L, PIN4 (E781Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469589	NM_017669.4(ERCC6L):c.1537C>T (p.Leu513Phe)	ERCC6L, PIN4 (L390F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392083	NM_017669.4(ERCC6L):c.2258A>G (p.Gln753Arg)	ERCC6L, PIN4 (Q753R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388578	NM_017669.4(ERCC6L):c.2659G>A (p.Asp887Asn)	ERCC6L, PIN4 (D764N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376842	NM_017669.4(ERCC6L):c.1837A>G (p.Lys613Glu)	ERCC6L, PIN4 (K490E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371919	NM_017669.4(ERCC6L):c.1454C>T (p.Ser485Leu)	ERCC6L, PIN4 (S362L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363190	NM_017669.4(ERCC6L):c.734G>A (p.Arg245His)	ERCC6L, PIN4 (R122H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320585	NM_017669.4(ERCC6L):c.2536G>C (p.Glu846Gln)	ERCC6L, PIN4 (E723Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315935	NM_017669.4(ERCC6L):c.2686T>G (p.Trp896Gly)	ERCC6L, PIN4 (W773G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308493	NM_017669.4(ERCC6L):c.830G>C (p.Gly277Ala)	ERCC6L, PIN4 (G277A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305251	NM_017669.4(ERCC6L):c.148A>G (p.Ile50Val)	ERCC6L, PIN4 (I50V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2303518	NM_017669.4(ERCC6L):c.2317G>A (p.Ala773Thr)	ERCC6L, PIN4 (A650T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270566	NM_017669.4(ERCC6L):c.2330T>C (p.Ile777Thr)	ERCC6L, PIN4 (I654T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266232	NM_017669.4(ERCC6L):c.1354G>A (p.Asp452Asn)	ERCC6L, PIN4 (D329N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223012	NM_017669.4(ERCC6L):c.1795G>C (p.Val599Leu)	ERCC6L, PIN4 (V476L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1328355	NM_017669.4(ERCC6L):c.1193G>A (p.Arg398His)	ERCC6L, PIN4 (R275H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1206029	NM_017669.4(ERCC6L):c.3442G>A (p.Gly1148Arg)	ERCC6L, PIN4 (G1025R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 790292	NM_017669.4(ERCC6L):c.498G>A (p.Lys166=)	ERCC6L, PIN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 787159	NM_017669.4(ERCC6L):c.566A>G (p.Asn189Ser)	ERCC6L, PIN4 (N189S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723908	NM_017669.4(ERCC6L):c.269G>A (p.Arg90Gln)	ERCC6L, PIN4 (R90Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 373501	NM_017669.4(ERCC6L):c.2803_2812del (p.Glu935fs)	ERCC6L, PIN4 (E812fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 36