ClinVar for Gene (Select 375748) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377768	NM_020207.7(ERCC6L2):c.1414-18C>T	ERCC6L2	Single nucleotide variant (intron variant)	Pancytopenia-developmental delay syndrome	GUncertain significance
Select item 3377767	NM_020207.7(ERCC6L2):c.2155G>C (p.Gly719Arg)	ERCC6L2 (G719R)	Single nucleotide variant (missense variant +1 more)	Pancytopenia-developmental delay syndrome	GUncertain significance
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 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 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 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 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 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 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 3067951	NM_020207.7(ERCC6L2):c.3740_3741del (p.Ile1247fs)	ERCC6L2 (I1247fs)	Microsatellite (frameshift variant +2 more)	Pancytopenia-developmental delay syndrome	GUncertain significance
Select item 3064437	NM_020207.7(ERCC6L2):c.3309dup (p.Ser1104fs)	ERCC6L2 (S1104fs)	Duplication (frameshift variant +1 more)	Pancytopenia-developmental delay syndrome	GUncertain significance
Select item 3064086	NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)	ERCC6L2 (C1093fs)	Duplication (frameshift variant +1 more)	Pancytopenia-developmental delay syndrome	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3057172	NM_020207.7(ERCC6L2):c.24C>T (p.Pro8=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	ERCC6L2-related disorder	GLikely benign
Select item 3053945	NM_020207.7(ERCC6L2):c.3493-5T>C	ERCC6L2	Single nucleotide variant (intron variant)	ERCC6L2-related disorder	GLikely benign
Select item 3043378	NM_020207.7(ERCC6L2):c.472-3C>T	ERCC6L2	Single nucleotide variant (intron variant)	ERCC6L2-related disorder	GLikely benign
Select item 3029445	NM_020207.7(ERCC6L2):c.1695G>C (p.Lys565Asn)	ERCC6L2 (K565N)	Single nucleotide variant (missense variant +1 more)	ERCC6L2-related disorder	GUncertain significance
Select item 3021733	NM_020207.7(ERCC6L2):c.3343G>A (p.Val1115Ile)	ERCC6L2 (V1115I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021726	NM_020207.7(ERCC6L2):c.2916A>G (p.Lys972=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3021138	NM_020207.7(ERCC6L2):c.2881A>C (p.Ser961Arg)	ERCC6L2 (S961R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020261	NM_020207.7(ERCC6L2):c.1771A>T (p.Asn591Tyr)	ERCC6L2 (N591Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014994	NM_020207.7(ERCC6L2):c.1592C>G (p.Ser531Cys)	ERCC6L2 (S531C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3014155	NM_020207.7(ERCC6L2):c.102T>C (p.Leu34=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3011910	NM_020207.7(ERCC6L2):c.4379C>A (p.Pro1460Gln)	ERCC6L2 (P1460Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3010540	NM_020207.7(ERCC6L2):c.2122G>C (p.Gly708Arg)	ERCC6L2 (G708R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010258	NM_020207.7(ERCC6L2):c.1301C>T (p.Thr434Ile)	ERCC6L2 (T434I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009885	NM_020207.7(ERCC6L2):c.3443T>C (p.Leu1148Ser)	ERCC6L2 (L1148S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008846	NM_020207.7(ERCC6L2):c.540A>G (p.Pro180=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008465	NM_020207.7(ERCC6L2):c.3797A>G (p.Gln1266Arg)	ERCC6L2 (Q1266R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3008464	NM_020207.7(ERCC6L2):c.1413+8T>C	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008051	NM_020207.7(ERCC6L2):c.4137T>C (p.Thr1379=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3007712	NM_020207.7(ERCC6L2):c.1158+12A>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007450	NM_020207.7(ERCC6L2):c.3571C>T (p.Leu1191Phe)	ERCC6L2 (L1191F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004459	NM_020207.7(ERCC6L2):c.2101-13A>C	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003841	NM_020207.7(ERCC6L2):c.901G>T (p.Gly301Ter)	ERCC6L2 (G301*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3001234	NM_020207.7(ERCC6L2):c.2245G>A (p.Glu749Lys)	ERCC6L2 (E749K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000302	NM_020207.7(ERCC6L2):c.-1G>C	ERCC6L2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2999792	NM_020207.7(ERCC6L2):c.3540A>G (p.Lys1180=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999605	NM_020207.7(ERCC6L2):c.2502T>C (p.Ala834=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999499	NM_020207.7(ERCC6L2):c.1008A>G (p.Pro336=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998937	NM_020207.7(ERCC6L2):c.3404dup (p.Asn1135fs)	ERCC6L2 (N1135fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2998741	NM_020207.7(ERCC6L2):c.2915A>G (p.Lys972Arg)	ERCC6L2 (K972R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998313	NM_020207.7(ERCC6L2):c.3753A>G (p.Thr1251=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2997201	NM_020207.7(ERCC6L2):c.3119A>T (p.Asp1040Val)	ERCC6L2 (D1040V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996426	NM_020207.7(ERCC6L2):c.4215C>T (p.Asp1405=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2993662	NM_020207.7(ERCC6L2):c.2025A>G (p.Gln675=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991657	NM_020207.7(ERCC6L2):c.3674+5A>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988497	NM_020207.7(ERCC6L2):c.2955C>T (p.Asp985=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988403	NM_020207.7(ERCC6L2):c.46+20C>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987936	NM_020207.7(ERCC6L2):c.4381A>G (p.Lys1461Glu)	ERCC6L2 (K1461E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2987570	NM_020207.7(ERCC6L2):c.3015A>G (p.Arg1005=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986584	NM_020207.7(ERCC6L2):c.744A>G (p.Leu248=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981499	NM_020207.7(ERCC6L2):c.2063G>A (p.Arg688Lys)	ERCC6L2 (R688K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2981065	NM_020207.7(ERCC6L2):c.3472A>G (p.Ile1158Val)	ERCC6L2 (I1158V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2980824	NM_020207.7(ERCC6L2):c.3441G>A (p.Glu1147=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978350	NM_020207.7(ERCC6L2):c.3001T>C (p.Leu1001=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977951	NM_020207.7(ERCC6L2):c.1016A>G (p.His339Arg)	ERCC6L2 (H339R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973033	NM_020207.7(ERCC6L2):c.207T>G (p.Leu69=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971880	NM_020207.7(ERCC6L2):c.1265G>A (p.Arg422Lys)	ERCC6L2 (R422K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971765	NM_020207.7(ERCC6L2):c.3180C>T (p.His1060=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971286	NM_020207.7(ERCC6L2):c.1300-18A>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970043	NM_020207.7(ERCC6L2):c.1416A>G (p.Glu472=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969866	NM_020207.7(ERCC6L2):c.1291T>G (p.Cys431Gly)	ERCC6L2 (C431G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969532	NM_020207.7(ERCC6L2):c.2836C>T (p.Arg946Ter)	ERCC6L2 (R946*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2969089	NM_020207.7(ERCC6L2):c.168T>G (p.Tyr56Ter)	ERCC6L2 (Y56*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2968858	NM_020207.7(ERCC6L2):c.2720C>T (p.Thr907Ile)	ERCC6L2 (T907I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967969	NM_020207.7(ERCC6L2):c.2101-15T>C	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967554	NM_020207.7(ERCC6L2):c.3295del (p.Val1099fs)	ERCC6L2 (V1099fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2964553	NM_020207.7(ERCC6L2):c.471+12T>C	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964453	NM_020207.7(ERCC6L2):c.3882G>T (p.Arg1294=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2962326	NM_020207.7(ERCC6L2):c.3150C>T (p.Val1050=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961556	NM_020207.7(ERCC6L2):c.1365A>C (p.Val455=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960942	NM_020207.7(ERCC6L2):c.3750C>T (p.Ala1250=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2960123	NM_020207.7(ERCC6L2):c.3552G>A (p.Pro1184=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958829	NM_020207.7(ERCC6L2):c.2250A>G (p.Ala750=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958604	NM_020207.7(ERCC6L2):c.1661T>C (p.Leu554Pro)	ERCC6L2 (L554P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958583	NM_020207.7(ERCC6L2):c.3248G>A (p.Ser1083Asn)	ERCC6L2 (S1083N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958544	NM_020207.7(ERCC6L2):c.3484A>G (p.Ser1162Gly)	ERCC6L2 (S1162G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2957778	NM_020207.7(ERCC6L2):c.3415C>T (p.Arg1139Ter)	ERCC6L2 (R1139*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2956568	NM_020207.7(ERCC6L2):c.3322A>G (p.Met1108Val)	ERCC6L2 (M1108V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2955622	NM_020207.7(ERCC6L2):c.3840A>G (p.Gln1280=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2920230	NM_020207.7(ERCC6L2):c.378C>T (p.Tyr126=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2914794	NM_020207.7(ERCC6L2):c.1528dup (p.Met510fs)	ERCC6L2 (M510fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2902416	NM_020207.7(ERCC6L2):c.982_1006del (p.Tyr328fs)	ERCC6L2 (Y328fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2897383	NM_020207.7(ERCC6L2):c.1534-10T>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2892361	NM_020207.7(ERCC6L2):c.630C>T (p.Tyr210=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879583	NM_020207.7(ERCC6L2):c.2798C>T (p.Thr933Ile)	ERCC6L2 (T933I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879582	NM_020207.7(ERCC6L2):c.3228T>G (p.Pro1076=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878647	NM_020207.7(ERCC6L2):c.2758A>C (p.Arg920=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878022	NM_020207.7(ERCC6L2):c.1816A>T (p.Asn606Tyr)	ERCC6L2 (N606Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2877372	NM_020207.7(ERCC6L2):c.3908T>C (p.Leu1303Pro)	ERCC6L2 (L1303P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2874477	NM_020207.7(ERCC6L2):c.4311C>T (p.Ser1437=)	ERCC6L2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2873971	NM_020207.7(ERCC6L2):c.788+17G>A	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873075	NM_020207.7(ERCC6L2):c.1413+17A>G	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872955	NM_020207.7(ERCC6L2):c.594+19G>A	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872892	NM_020207.7(ERCC6L2):c.1947+8T>C	ERCC6L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870036	NM_020207.7(ERCC6L2):c.3547C>G (p.Gln1183Glu)	ERCC6L2 (Q1183E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869835	NM_020207.7(ERCC6L2):c.2988G>A (p.Lys996=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869760	NM_020207.7(ERCC6L2):c.2733T>G (p.Thr911=)	ERCC6L2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867915	NM_020207.7(ERCC6L2):c.3359A>C (p.Tyr1120Ser)	ERCC6L2 (Y1120S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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