8860[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 58155	GRCh38/hg38 6q23.3(chr6:136745817-136859553)x3	LOC113146415, LOC123864077 +15 more	Copy number gain	See cases	GPathogenic
Select item 1200249	NC_000006.12:g.136822467G>T	PEX7	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1272567	NC_000006.12:g.136822473A>T	PEX7	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 674920	NM_000288.4(PEX7):c.-95T>C	PEX7	Single nucleotide variant (genic upstream transcript variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 355519	NM_000288.3(PEX7):c.-91G>A	PEX7	Single nucleotide variant	Phytanic acid storage disease +1 more	GUncertain significance
Select item 355520	NM_000288.3(PEX7):c.-88T>C	PEX7	Single nucleotide variant	Phytanic acid storage disease +1 more	GUncertain significance
Select item 355521	NM_000288.3(PEX7):c.-77T>C	PEX7	Single nucleotide variant	Phytanic acid storage disease +2 more	GUncertain significance
Select item 904144	NM_000288.4(PEX7):c.-69C>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 904145	NM_000288.4(PEX7):c.-65A>T	PEX7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 355522	NM_000288.4(PEX7):c.-56C>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +2 more	GBenign
Select item 558083	NM_000288.4(PEX7):c.-46_-38dup	PEX7	Duplication (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
Select item 38871	NM_000288.4(PEX7):c.-45C>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B	GLikely pathogenic
Select item 511998	NM_000288.4(PEX7):c.-44G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 355523	NM_000288.4(PEX7):c.-35G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 255745	NM_000288.4(PEX7):c.-31G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +3 more	GBenign/Likely benign
Select item 355524	NM_000288.4(PEX7):c.-28G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 904922	NM_000288.4(PEX7):c.-18C>T	PEX7	Single nucleotide variant (5 prime UTR variant)	Peroxisome biogenesis disorder 9B +1 more	GUncertain significance
Select item 3043098	NM_000288.4(PEX7):c.-10G>T	PEX7	Single nucleotide variant (5 prime UTR variant)	PEX7-related disorder	GLikely benign
Select item 355525	NM_000288.4(PEX7):c.-3G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GUncertain significance
Select item 2581680	NM_000288.4(PEX7):c.-1G>A	PEX7	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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 2579438	NM_000288.4(PEX7):c.25G>C (p.Ala9Pro)	PEX7 (A9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 371045	NM_000288.4(PEX7):c.31_56del (p.Met11fs)	PEX7 (M11fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 556260	NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup)	PEX7	Duplication (inframe_insertion)	Rhizomelic chondrodysplasia punctata type 1	GUncertain significance
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 1209595	NM_000288.4(PEX7):c.38G>A (p.Arg13Gln)	PEX7 (R13Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 7790	NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)	PEX7 (T14P)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 9B	GPathogenic
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 1723995	NM_000288.4(PEX7):c.46_47del (p.Gly16fs)	PEX7 (G16fs)	Deletion (frameshift variant)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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 2681482	NM_000288.4(PEX7):c.59A>G (p.Tyr20Cys)	PEX7 (Y20C)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	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 370938	NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)	PEX7 (Y20*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1 +1 more	GLikely pathogenic
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	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 595729	NM_000288.4(PEX7):c.67G>A (p.Glu23Lys)	PEX7 (E23K)	Single nucleotide variant (missense variant)	not provided	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)	PEX7-related disorder +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 370746	NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)	PEX7 (Y27*)	Single nucleotide variant (nonsense)	Rhizomelic chondrodysplasia punctata type 1	GLikely pathogenic
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)	Inborn genetic diseases +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

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