ClinVar for MedGen (Select 98149) - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436670	NM_152281.3(GORAB):c.190C>T (p.Gln64Ter)	GORAB (Q64*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 2432233	NM_152281.3(GORAB):c.340A>T (p.Asn114Tyr)	GORAB (N114Y +1 more)	Single nucleotide variant (missense variant +2 more)	Geroderma osteodysplastica	GUncertain significance
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 2183787	NM_152281.3(GORAB):c.236C>G (p.Pro79Arg)	GORAB (P62R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1975053	NM_152281.3(GORAB):c.1003del (p.Ser335fs)	GORAB (S335fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1937250	NM_152281.3(GORAB):c.859G>T (p.Val287Leu)	GORAB (V270L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1802239	NM_152281.3(GORAB):c.287del (p.Gly96fs)	GORAB (G96fs)	Deletion (frameshift variant +2 more)	Geroderma osteodysplastica	GLikely pathogenic
Select item 1703424	NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)	GORAB (R35*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 1701115	NM_152281.3(GORAB):c.805G>A (p.Glu269Lys)	GORAB (E114K +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica +1 more	GUncertain significance
Select item 1521667	NM_152281.2(GORAB):c.5G>T (p.Ser2Ile)	GORAB, GORAB-AS1 (S2I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1518633	NM_152281.3(GORAB):c.-28C>G	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1468014	NM_152281.3(GORAB):c.559C>T (p.Arg187Trp)	GORAB (R187W +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica +2 more	GUncertain significance
Select item 1446136	NM_152281.3(GORAB):c.388G>A (p.Asp130Asn)	GORAB (D130N)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1416394	NM_152281.3(GORAB):c.658G>A (p.Ala220Thr)	GORAB (A65T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1391742	NM_152281.3(GORAB):c.868G>A (p.Glu290Lys)	GORAB (E135K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1331084	NM_152281.3(GORAB):c.156G>T (p.Gly52=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	Geroderma osteodysplastica	GLikely benign
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 1059550	NM_152281.3(GORAB):c.408G>C (p.Lys136Asn)	GORAB (K136N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1032478	NM_152281.3(GORAB):c.785G>A (p.Arg262Gln)	GORAB (R262Q +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 1013263	NM_152281.3(GORAB):c.648C>G (p.Asp216Glu)	GORAB (D216E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1013262	NM_152281.3(GORAB):c.-21G>A	GORAB, GORAB-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 876790	NM_152281.3(GORAB):c.*612A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
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 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 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 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 875796	NM_152281.3(GORAB):c.*404A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 875795	NM_152281.3(GORAB):c.1064G>T (p.Cys355Phe)	GORAB (C200F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 874914	NM_152281.3(GORAB):c.*1305T>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 873977	NM_152281.3(GORAB):c.*998A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 816877	NM_152281.3(GORAB):c.596T>G (p.Val199Gly)	GORAB (V199G +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica	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 800784	NM_152281.3(GORAB):c.231dup (p.Pro78fs)	GORAB (P78fs)	Duplication (frameshift variant +2 more)	Geroderma osteodysplastica	GPathogenic
Select item 786474	NM_152281.3(GORAB):c.618C>T (p.Leu206=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 632088	NM_152281.3(GORAB):c.118C>T (p.Arg40Ter)	GORAB (R65* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632087	NM_152281.3(GORAB):c.-48dup	GORAB, GORAB-AS1	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 546615	NM_152281.3(GORAB):c.952G>A (p.Val318Met)	GORAB (V163M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 523030	NM_152281.3(GORAB):c.649T>C (p.Tyr217His)	GORAB (Y242H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 493056	NM_152281.3(GORAB):c.782T>A (p.Leu261His)	GORAB (L106H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 424921	NM_152281.3(GORAB):c.223G>A (p.Val75Ile)	GORAB (V75I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 373296	NM_152281.3(GORAB):c.668G>C (p.Arg223Pro)	GORAB (R248P +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 293684	NM_152281.3(GORAB):c.*1298T>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293683	NM_152281.3(GORAB):c.*1217T>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293682	NM_152281.3(GORAB):c.*1160G>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293681	NM_152281.3(GORAB):c.*1127T>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293680	NM_152281.3(GORAB):c.*1065A>T	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293679	NM_152281.3(GORAB):c.*1064T>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293678	NM_152281.3(GORAB):c.*1063T>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293677	NM_152281.3(GORAB):c.*1039A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293676	NM_152281.3(GORAB):c.*980A>T	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293675	NM_152281.3(GORAB):c.*944A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293674	NM_152281.3(GORAB):c.*884C>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293673	NM_152281.3(GORAB):c.*883G>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293672	NM_152281.3(GORAB):c.*818A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293671	NM_152281.3(GORAB):c.*803T>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293670	NM_152281.3(GORAB):c.*771A>T	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293669	NM_152281.3(GORAB):c.*653T>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293668	NM_152281.3(GORAB):c.*598A>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293667	NM_152281.3(GORAB):c.*534T>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GBenign
Select item 293666	NM_152281.3(GORAB):c.*349G>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293665	NM_152281.3(GORAB):c.*222G>T	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293664	NM_152281.3(GORAB):c.*102G>A	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GUncertain significance
Select item 293663	NM_152281.3(GORAB):c.*47T>G	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 293662	NM_152281.3(GORAB):c.941C>T (p.Ala314Val)	GORAB (A339V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 293661	NM_152281.3(GORAB):c.719G>A (p.Arg240His)	GORAB (R265H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 293660	NM_152281.3(GORAB):c.663-12A>G	GORAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 293659	NM_152281.3(GORAB):c.657C>T (p.Tyr219=)	GORAB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 293658	NM_152281.3(GORAB):c.626G>A (p.Arg209Gln)	GORAB (R234Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 293657	NM_152281.3(GORAB):c.560G>A (p.Arg187Gln)	GORAB (R212Q +2 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica +1 more	GUncertain significance
Select item 293656	NM_152281.3(GORAB):c.522-9A>T	GORAB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293655	NM_152281.3(GORAB):c.461G>A (p.Arg154Gln)	GORAB (R179Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 293654	NM_152281.3(GORAB):c.282C>G (p.Pro94=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	Geroderma osteodysplastica +1 more	GConflicting classifications of pathogenicity
Select item 293653	NM_152281.3(GORAB):c.276C>T (p.Thr92=)	GORAB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293652	NM_152281.3(GORAB):c.274A>G (p.Thr92Ala)	GORAB (T117A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 293651	NM_152281.3(GORAB):c.188A>G (p.Glu63Gly)	GORAB (E88G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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
Select item 293649	NM_152281.3(GORAB):c.62-3T>C	GORAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 288228	NM_152281.3(GORAB):c.920T>G (p.Leu307Ter)	GORAB (L152* +1 more)	Single nucleotide variant (nonsense +1 more)	Geroderma osteodysplastica +1 more	GUncertain significance
Select item 288166	NM_152281.3(GORAB):c.625C>T (p.Arg209Trp)	GORAB (R234W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 262629	NM_152281.3(GORAB):c.883G>A (p.Glu295Lys)	GORAB (E320K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 225381	NM_152281.3(GORAB):c.408_409del (p.Lys137fs)	GORAB (K137fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 218115	NM_152281.3(GORAB):c.658G>C (p.Ala220Pro)	GORAB (A245P +1 more)	Single nucleotide variant (missense variant +1 more)	Geroderma osteodysplastica	GPathogenic
Select item 2654	GORAB, 1-BP DEL, 257C	GORAB	Deletion	Geroderma osteodysplastica	GPathogenic
Select item 2653	NM_152281.3(GORAB):c.662+5G>C	GORAB	Single nucleotide variant (3 prime UTR variant +1 more)	Geroderma osteodysplastica	GPathogenic
Select item 2652	NM_152281.3(GORAB):c.784C>T (p.Arg262Ter)	GORAB (R107*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2650	NM_152281.3(GORAB):c.367G>T (p.Glu123Ter)	GORAB	Single nucleotide variant (nonsense +2 more)	GORAB-related condition +1 more	GPathogenic

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Items: 91