25676[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 147403	GRCh38/hg38 1q24.2(chr1:170289625-170756155)x1	GORAB, GORAB-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1241712	NC_000001.11:g.170532026T>C	GORAB, GORAB-AS1	Single nucleotide variant	not provided	GBenign
Select item 623306	NM_152281.2(GORAB):c.-1_1delGAinsCT (p.Met(?_1)_Met1(?))	GORAB, GORAB-AS1	Indel	Geroderma osteodysplastica	GPathogenic/Likely pathogenic
Select item 875751	NM_152281.2(GORAB):c.3G>A (p.Met1Ile)	GORAB, GORAB-AS1 (M1I)	Single nucleotide variant (missense variant)	Geroderma osteodysplastica	GUncertain significance
Select item 1521667	NM_152281.2(GORAB):c.5G>T (p.Ser2Ile)	GORAB, GORAB-AS1 (S2I)	Single nucleotide variant (missense variant)	Geroderma osteodysplastica +2 more	GUncertain significance
Select item 2792725	NC_000001.11:g.170532158_170532179dup	GORAB, GORAB-AS1	Duplication	not provided	GPathogenic
Select item 2712315	NM_152281.2(GORAB):c.8G>A (p.Trp3Ter)	GORAB, GORAB-AS1 (W3*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1908394	NM_152281.2(GORAB):c.9G>C (p.Trp3Cys)	GORAB, GORAB-AS1 (W3C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191413	NM_152281.2(GORAB):c.11C>T (p.Ala4Val)	GORAB-AS1, GORAB (A4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913509	NM_152281.2(GORAB):c.11C>A (p.Ala4Glu)	GORAB, GORAB-AS1 (A4E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779934	NM_152281.2(GORAB):c.12A>T (p.Ala4=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420720	NM_152281.2(GORAB):c.12A>G (p.Ala4=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475793	NC_000001.11:g.170532162C>T	GORAB, GORAB-AS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 1605426	NC_000001.11:g.170532163A>C	GORAB, GORAB-AS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1551627	NC_000001.11:g.170532163A>G	GORAB, GORAB-AS1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 876745	NM_152281.3(GORAB):c.-57T>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica +1 more	GConflicting classifications of pathogenicity
Select item 876746	NM_152281.3(GORAB):c.-53C>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1936483	NM_152281.3(GORAB):c.-50T>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 745570	NM_152281.3(GORAB):c.-49C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 632087	NM_152281.3(GORAB):c.-48dup	GORAB, GORAB-AS1	Duplication (5 prime UTR variant +1 more)	Geroderma osteodysplastica +2 more	GConflicting classifications of pathogenicity
Select item 2696073	NM_152281.3(GORAB):c.-46G>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1532757	NM_152281.3(GORAB):c.-46G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2593333	NM_152281.3(GORAB):c.-44C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1569631	NM_152281.3(GORAB):c.-40G>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3100989	NM_152281.3(GORAB):c.-39A>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2125274	NM_152281.3(GORAB):c.-38G>T	GORAB-AS1, GORAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1518633	NM_152281.3(GORAB):c.-28C>G	GORAB-AS1, GORAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 2719265	NM_152281.3(GORAB):c.-25T>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2432232	NM_152281.3(GORAB):c.-24T>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 1013262	NM_152281.3(GORAB):c.-21G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Geroderma osteodysplastica +2 more	GUncertain significance
Select item 2060944	NM_152281.3(GORAB):c.-20G>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1667649	NM_152281.3(GORAB):c.-19G>C	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1390022	NM_152281.3(GORAB):c.-15C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2914500	NM_152281.3(GORAB):c.-13G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1955721	NM_152281.3(GORAB):c.-12T>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2826473	NM_152281.3(GORAB):c.-11G>A	GORAB-AS1, GORAB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1490025	NM_152281.3(GORAB):c.-6G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2735794	NM_152281.3(GORAB):c.-4G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1981937	NM_152281.3(GORAB):c.-2C>T	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2757894	NM_152281.3(GORAB):c.3G>A (p.Met1Ile)	GORAB, GORAB-AS1 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 804379	NM_152281.3(GORAB):c.5del (p.Ala2fs)	GORAB, GORAB-AS1 (A2fs)	Deletion (frameshift variant +2 more)	Geroderma osteodysplastica	GLikely pathogenic
Select item 2766333	NM_152281.3(GORAB):c.7C>T (p.Gln3Ter)	GORAB, GORAB-AS1 (Q3*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2832462	NM_152281.3(GORAB):c.14G>A (p.Trp5Ter)	GORAB, GORAB-AS1 (W5*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 1165685	NM_152281.3(GORAB):c.21A>C (p.Gly7=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 780278	NM_152281.3(GORAB):c.21= (p.Gly7=)	GORAB, GORAB-AS1	Variation (no sequence alteration +1 more)	not provided	GBenign
Select item 2695072	NM_152281.3(GORAB):c.24C>T (p.Phe8=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 293648	NM_152281.3(GORAB):c.24C>G (p.Phe8Leu)	GORAB, GORAB-AS1 (F33L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1915173	NM_152281.3(GORAB):c.27T>C (p.Ser9=)	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2768642	NM_152281.3(GORAB):c.42G>A (p.Arg14=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2840751	NM_152281.3(GORAB):c.53del (p.Gln18fs)	GORAB, GORAB-AS1 (Q18fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 2782380	NM_152281.3(GORAB):c.57T>C (p.Thr19=)	GORAB, GORAB-AS1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 931046	NM_152281.3(GORAB):c.61G>T (p.Asp21Tyr)	GORAB, GORAB-AS1 (D21Y)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica	GUncertain significance
Select item 2830611	NM_152281.3(GORAB):c.61+1G>A	GORAB, GORAB-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1639343	NM_152281.3(GORAB):c.61+7A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779480	NM_152281.3(GORAB):c.61+8G>A	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 876747	NM_152281.3(GORAB):c.61+13G>T	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	Geroderma osteodysplastica +1 more	GConflicting classifications of pathogenicity
Select item 2744275	NM_152281.3(GORAB):c.61+15T>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959941	NM_152281.3(GORAB):c.61+17A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564956	NM_152281.3(GORAB):c.61+17A>C	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225317	NM_152281.3(GORAB):c.61+31C>T	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269511	NM_152281.3(GORAB):c.61+97del	GORAB, GORAB-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1229402	NM_152281.3(GORAB):c.61+150A>G	GORAB, GORAB-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2835552	NM_152281.3(GORAB):c.62-20C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017726	NM_152281.3(GORAB):c.62-16A>C	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794765	NM_152281.3(GORAB):c.62-16A>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805458	NM_152281.3(GORAB):c.62-11_62-9del	GORAB	Deletion (intron variant)	not provided	GLikely benign
Select item 2975488	NM_152281.3(GORAB):c.62-12T>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846578	NM_152281.3(GORAB):c.62-11C>T	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974541	NM_152281.3(GORAB):c.62-4A>G	GORAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293649	NM_152281.3(GORAB):c.62-3T>C	GORAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3019368	NM_152281.3(GORAB):c.63T>C (p.Asp21=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2728368	NM_152281.3(GORAB):c.66A>G (p.Pro22=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3013753	NM_152281.3(GORAB):c.69T>C (p.Phe23=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1524817	NM_152281.3(GORAB):c.71A>T (p.Glu24Val)	GORAB (E24V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1503029	NM_152281.3(GORAB):c.79C>G (p.Arg27Gly)	GORAB (R27G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1360242	NM_152281.3(GORAB):c.79C>T (p.Arg27Ter)	GORAB (R27*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 876748	NM_152281.3(GORAB):c.82C>T (p.Arg28Cys)	GORAB (R28C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 284846	NM_152281.3(GORAB):c.83G>A (p.Arg28His)	GORAB (R28H)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica +1 more	GUncertain significance
Select item 1183320	NM_152281.3(GORAB):c.87_207delinsGGAGGTCTCTGGAACCTCATTACTTCCAGAGCAGCTGCTTTCAGCACC (p.Pro30fs)	GORAB (P30fs)	Indel (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2639545	NM_152281.3(GORAB):c.88C>G (p.Pro30Ala)	GORAB (P13A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1913531	NM_152281.3(GORAB):c.88C>A (p.Pro30Thr)	GORAB (P13T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2186579	NM_152281.3(GORAB):c.89C>A (p.Pro30His)	GORAB (P13H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2167016	NM_152281.3(GORAB):c.90C>T (p.Pro30=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1027281	NM_152281.3(GORAB):c.91G>A (p.Ala31Thr)	GORAB (A31T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1524665	NM_152281.3(GORAB):c.92C>T (p.Ala31Val)	GORAB (A31V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2965127	NM_152281.3(GORAB):c.93G>A (p.Ala31=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1703424	NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)	GORAB (R35*)	Single nucleotide variant (nonsense +2 more)	Geroderma osteodysplastica +2 more	GPathogenic
Select item 712025	NM_152281.3(GORAB):c.103C>A (p.Arg35=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2994086	NM_152281.3(GORAB):c.108A>G (p.Gln36=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1976591	NM_152281.3(GORAB):c.112C>T (p.Leu38Phe)	GORAB (L21F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 293650	NM_152281.3(GORAB):c.113T>G (p.Leu38Arg)	GORAB (L63R +1 more)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica	GUncertain significance

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