C2749346[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370629	NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	PEX7 (G7fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 9B +1 more	GPathogenic/Likely pathogenic
Select item 2746764	NM_000288.4(PEX7):c.10del (p.Val4fs)	PEX7 (V4fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1589415	NM_000288.4(PEX7):c.9G>A (p.Ala3=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1122645	NM_000288.4(PEX7):c.9G>C (p.Ala3=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2703133	NM_000288.4(PEX7):c.12del (p.Cys5fs)	PEX7 (C5fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1673677	NM_000288.4(PEX7):c.12G>A (p.Val4=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1972804	NM_000288.4(PEX7):c.15C>T (p.Cys5=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1063708	NM_000288.4(PEX7):c.17G>C (p.Gly6Ala)	PEX7 (G6A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2703134	NM_000288.4(PEX7):c.18T>G (p.Gly6=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2705515	NM_000288.4(PEX7):c.22_31del (p.Ala8fs)	PEX7 (A8fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1944944	NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)	PEX7 (G7E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1930426	NM_000288.4(PEX7):c.21A>G (p.Gly7=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2063358	NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)	PEX7 (A8P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1510470	NM_000288.4(PEX7):c.23C>A (p.Ala8Glu)	PEX7 (A8E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2055015	NM_000288.4(PEX7):c.24G>A (p.Ala8=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 1542119	NM_000288.4(PEX7):c.24G>T (p.Ala8=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1462742	NM_000288.4(PEX7):c.24G>C (p.Ala8=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2173338	NM_000288.4(PEX7):c.26C>T (p.Ala9Val)	PEX7 (A9V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1496152	NM_000288.4(PEX7):c.26C>A (p.Ala9Glu)	PEX7 (A9E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2708901	NM_000288.4(PEX7):c.31_56dup (p.Tyr20fs)	PEX7 (Y20fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 2030652	NM_000288.4(PEX7):c.27G>C (p.Ala9=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1127689	NM_000288.4(PEX7):c.27G>A (p.Ala9=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1375474	NM_000288.4(PEX7):c.28C>T (p.Arg10Trp)	PEX7 (R10W)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1540537	NM_000288.4(PEX7):c.30G>A (p.Arg10=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2419757	NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)	PEX7	Duplication (inframe_insertion)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1079841	NM_000288.4(PEX7):c.34C>T (p.Leu12=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 7784	NM_000288.4(PEX7):c.45_52dup (p.His18fs)	PEX7 (H18fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 2136476	NM_000288.4(PEX7):c.45_52del (p.Gly16fs)	PEX7 (G16fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 2806053	NM_000288.4(PEX7):c.39G>A (p.Arg13=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1964504	NM_000288.4(PEX7):c.41C>T (p.Thr14Met)	PEX7 (T14M)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1147081	NM_000288.4(PEX7):c.42G>A (p.Thr14=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 447933	NM_000288.4(PEX7):c.44C>T (p.Pro15Leu)	PEX7 (P15L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +3 more	GUncertain significance
Select item 1006354	NM_000288.4(PEX7):c.46G>C (p.Gly16Arg)	PEX7 (G16R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1962016	NM_000288.4(PEX7):c.48A>G (p.Gly16=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 846733	NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)	PEX7 (F24fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 2033816	NM_000288.4(PEX7):c.52dup (p.His18fs)	PEX7 (H18fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1524440	NM_000288.4(PEX7):c.53A>G (p.His18Arg)	PEX7 (H18R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1536668	NM_000288.4(PEX7):c.54C>T (p.His18=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1384934	NM_000288.4(PEX7):c.57_67dup (p.Glu23fs)	PEX7 (E23fs)	Duplication (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1111011	NM_000288.4(PEX7):c.57C>T (p.Gly19=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1088151	NM_000288.4(PEX7):c.60C>T (p.Tyr20=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 1670907	NM_000288.4(PEX7):c.63C>A (p.Ala21=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1117788	NM_000288.4(PEX7):c.63C>G (p.Ala21=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1090464	NM_000288.4(PEX7):c.63C>T (p.Ala21=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1429068	NM_000288.4(PEX7):c.65C>T (p.Ala22Val)	PEX7 (A22V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2845050	NM_000288.4(PEX7):c.66C>G (p.Ala22=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1586419	NM_000288.4(PEX7):c.66C>T (p.Ala22=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 2996165	NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)	PEX7 (E23Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1965395	NM_000288.4(PEX7):c.69G>A (p.Glu23=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2003648	NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)	PEX7 (F24L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1151004	NM_000288.4(PEX7):c.72C>T (p.Phe24=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 188918	NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)	PEX7 (S25F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GConflicting classifications of pathogenicity
Select item 1109566	NM_000288.4(PEX7):c.75C>T (p.Ser25=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2167795	NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)	PEX7 (P26A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2115725	NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)	PEX7 (P26R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1163857	NM_000288.4(PEX7):c.77C>T (p.Pro26Leu)	PEX7 (P26L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +2 more	GUncertain significance
Select item 1149668	NM_000288.4(PEX7):c.78G>A (p.Pro26=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1133044	NM_000288.4(PEX7):c.81C>T (p.Tyr27=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1150477	NM_000288.4(PEX7):c.82C>T (p.Leu28=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2838826	NM_000288.4(PEX7):c.84G>C (p.Leu28=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1543811	NM_000288.4(PEX7):c.84G>A (p.Leu28=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2149261	NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)	PEX7 (P29A)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 498141	NM_000288.4(PEX7):c.86C>T (p.Pro29Leu)	PEX7 (P29L)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +4 more	GUncertain significance
Select item 2812197	NM_000288.4(PEX7):c.87G>C (p.Pro29=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2147562	NM_000288.4(PEX7):c.87G>A (p.Pro29=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1534201	NM_000288.4(PEX7):c.90C>T (p.Gly30=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1133827	NM_000288.4(PEX7):c.90C>A (p.Gly30=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2120579	NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)	PEX7 (R31C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 355526	NM_000288.4(PEX7):c.94C>T (p.Leu32=)	PEX7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 509113	NM_000288.4(PEX7):c.96G>A (p.Leu32=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 1487762	NM_000288.4(PEX7):c.100T>G (p.Cys34Gly)	PEX7 (C34G)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1996134	NM_000288.4(PEX7):c.105_117del (p.Gln38fs)	PEX7 (Q38fs)	Deletion (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1905595	NM_000288.4(PEX7):c.105C>T (p.Ala35=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2069768	NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)	PEX7 (T36I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2746939	NM_000288.4(PEX7):c.108C>G (p.Thr36=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2029049	NM_000288.4(PEX7):c.111_112del (p.Gln38fs)	PEX7 (Q38fs)	Microsatellite (frameshift variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1096887	NM_000288.4(PEX7):c.111G>A (p.Ala37=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B +1 more	GLikely benign
Select item 1068851	NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)	PEX7 (Q38*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 2159474	NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)	PEX7 (Q38R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1013882	NM_000288.4(PEX7):c.115C>A (p.His39Asn)	PEX7 (H39N)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 942407	NM_000288.4(PEX7):c.116A>G (p.His39Arg)	PEX7 (H39R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2059071	NM_000288.4(PEX7):c.117C>G (p.His39Gln)	PEX7 (H39Q)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 1157805	NM_000288.4(PEX7):c.117C>T (p.His39=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 1521660	NM_000288.4(PEX7):c.120C>T (p.Tyr40=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 7788	NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	PEX7 (Y40*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1 +5 more	GPathogenic
Select item 1949645	NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)	PEX7 (G41C)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1008460	NM_000288.4(PEX7):c.121G>C (p.Gly41Arg)	PEX7 (G41R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1495627	NM_000288.4(PEX7):c.122G>A (p.Gly41Asp)	PEX7 (G41D)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2018172	NM_000288.4(PEX7):c.123C>A (p.Gly41=)	PEX7	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 500471	NM_000288.4(PEX7):c.126C>T (p.Ile42=)	PEX7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 850298	NM_000288.4(PEX7):c.128C>T (p.Ala43Val)	PEX7 (A43V)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 1010243	NM_000288.4(PEX7):c.129G>C (p.Ala43=)	PEX7	Single nucleotide variant (synonymous variant)	Phytanic acid storage disease +3 more	GConflicting classifications of pathogenicity
Select item 639671	NM_000288.4(PEX7):c.130+1G>A	PEX7	Single nucleotide variant (splice donor variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GPathogenic
Select item 1453098	NM_000288.4(PEX7):c.130+2T>G	PEX7	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 1991705	NM_000288.4(PEX7):c.130+3G>A	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 2919663	NM_000288.4(PEX7):c.130+10_130+36dup	PEX7	Duplication (intron variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2150990	NM_000288.4(PEX7):c.130+5G>A	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B	GUncertain significance
Select item 1402279	NM_000288.4(PEX7):c.130+6G>C	PEX7	Single nucleotide variant (intron variant)	PEX7-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2789368	NM_000288.4(PEX7):c.130+7C>G	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B	GLikely benign
Select item 2167519	NM_000288.4(PEX7):c.130+7C>T	PEX7	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder 9B	GLikely benign

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