ClinVar for MedGen (Select 482001) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585400	NM_031448.6(C19orf12):c.118T>G (p.Phe40Val)	C19orf12 (F40V)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 2584363	NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)	C19orf12 (A37fs)	Deletion (frameshift variant +2 more)	Neurodegeneration with brain iron accumulation 4	GPathogenic
Select item 2579684	NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)	C19orf12 (P18T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43 +1 more	GUncertain significance
Select item 2444859	NM_031448.6(C19orf12):c.415T>C (p.Tyr139His)	C19orf12 (Y139H +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 1299224	NM_031448.6(C19orf12):c.268A>G (p.Asn90Asp)	C19orf12 (N26D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 43 +1 more	GUncertain significance
Select item 1251967	NM_031448.6(C19orf12):c.332T>C (p.Val111Ala)	C19orf12 (V111A +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 1188837	NM_031448.6(C19orf12):c.85G>C (p.Gly29Arg)	C19orf12 (G29R)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43	GUncertain significance
Select item 1188836	NM_031448.6(C19orf12):c.182dup (p.Leu61fs)	C19orf12 (L61fs)	Duplication (frameshift variant +1 more)	Neurodegeneration with brain iron accumulation 4	GPathogenic
Select item 982027	NM_031448.6(C19orf12):c.240_241dup (p.Pro81fs)	C19orf12 (P17fs +1 more)	Duplication (frameshift variant)	Neurodegeneration with brain iron accumulation 4	GLikely pathogenic
Select item 892392	NM_031448.6(C19orf12):c.-1G>A	C19orf12	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892282	NM_031448.6(C19orf12):c.*1827G>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892281	NM_031448.6(C19orf12):c.*1840G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892280	NM_031448.6(C19orf12):c.*1854G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 892279	NM_031448.6(C19orf12):c.*1870G>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 892219	NM_031448.6(C19orf12):c.*2784C>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 892218	NM_031448.6(C19orf12):c.*3091A>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891192	NM_031448.6(C19orf12):c.113T>C (p.Met38Thr)	C19orf12 (M38T +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891191	NM_031448.6(C19orf12):c.371T>C (p.Met124Thr)	C19orf12 (M60T +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891138	NM_031448.6(C19orf12):c.*1111A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891063	NM_031448.6(C19orf12):c.*1897A>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891062	NM_031448.6(C19orf12):c.*1940T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891061	NM_031448.6(C19orf12):c.*1944A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891060	NM_031448.6(C19orf12):c.*2058T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 891059	NM_031448.6(C19orf12):c.*2117G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 891058	NM_031448.6(C19orf12):c.*2207C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890995	NM_031448.6(C19orf12):c.*3272C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890994	NM_031448.6(C19orf12):c.*3300C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890993	NM_031448.6(C19orf12):c.*3314C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890641	NM_031448.6(C19orf12):c.*5C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890640	NM_031448.6(C19orf12):c.*281C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890580	NM_031448.6(C19orf12):c.*1203A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890579	NM_031448.6(C19orf12):c.*1226C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890578	NM_031448.6(C19orf12):c.*1361C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 890577	NM_031448.6(C19orf12):c.*1362G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890576	NM_031448.6(C19orf12):c.*1413G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 890501	NM_031448.6(C19orf12):c.*2208G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890500	NM_031448.6(C19orf12):c.*2328G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890499	NM_031448.6(C19orf12):c.*2384C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890423	NM_031448.6(C19orf12):c.*3352C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890422	NM_031448.6(C19orf12):c.*3357G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 890421	NM_031448.6(C19orf12):c.*3400T>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888944	NM_031448.6(C19orf12):c.*554G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888943	NM_031448.6(C19orf12):c.*579C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 888880	NM_031448.6(C19orf12):c.*1648C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888879	NM_031448.6(C19orf12):c.*1666G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 888793	NM_031448.6(C19orf12):c.*2671A>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888792	NM_031448.6(C19orf12):c.*2692C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 888791	NM_031448.6(C19orf12):c.*2732G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888790	NM_031448.6(C19orf12):c.*2778C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 888720	NM_031448.6(C19orf12):c.*3518C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 888719	NM_031448.6(C19orf12):c.*3697C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 873517	NM_031448.6(C19orf12):c.241C>A (p.Pro81Thr)	C19orf12 (P17T +2 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 636275	NM_031448.6(C19orf12):c.194_204del (p.Met65fs)	C19orf12 (M1fs +1 more)	Deletion (frameshift variant +1 more)	Neurodegeneration with brain iron accumulation 4	GPathogenic
Select item 636274	NM_031448.6(C19orf12):c.232_233del (p.Met78fs)	C19orf12 (M89fs +2 more)	Deletion (frameshift variant)	Neurodegeneration with brain iron accumulation 4	GPathogenic
Select item 634443	NM_031448.6(C19orf12):c.371dup (p.Met124fs)	C19orf12 (C106fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 617504	NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro)	C19orf12 (S16P +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 617482	NM_031448.6(C19orf12):c.-10G>C	C19orf12 (K8N)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4	GPathogenic
Select item 617481	NM_031448.6(C19orf12):c.161G>A (p.Gly54Glu)	C19orf12 (G54E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 43 +2 more	GPathogenic/Likely pathogenic
Select item 506451	NM_031448.6(C19orf12):c.177G>A (p.Gly59=)	C19orf12	Single nucleotide variant (synonymous variant +1 more)	Neurodegeneration with brain iron accumulation 4 +3 more	GConflicting classifications of pathogenicity
Select item 434550	NM_031448.6(C19orf12):c.161-2del	C19orf12	Deletion (splice acceptor variant)	Hereditary spastic paraplegia 43 +1 more	GConflicting classifications of pathogenicity
Select item 434549	NM_031448.6(C19orf12):c.303G>A (p.Trp101Ter)	C19orf12 (W101* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 425168	NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)	C19orf12 (Q69* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 402183	NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)	C19orf12 (G54V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely pathogenic
Select item 387761	NM_031448.6(C19orf12):c.-11+178C>T	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 380881	NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)	C19orf12 (Q138R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodegeneration with brain iron accumulation 4 +3 more	GLikely benign
Select item 369262	NM_001256047.1(C19orf12):c.*3833T>A	C19orf12	Single nucleotide variant	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328738	NM_031448.6(C19orf12):c.-11+120T>C	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328737	NM_031448.6(C19orf12):c.-11+124G>T	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328736	NM_031448.6(C19orf12):c.-11+131C>T	C19orf12, LOC130064129	Single nucleotide variant (intron variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328735	NM_031448.6(C19orf12):c.-11+149G>C	LOC130064129, C19orf12	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4 +1 more	GLikely benign
Select item 328734	NM_031448.6(C19orf12):c.-11+163G>A	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328733	NM_031448.6(C19orf12):c.-11+181T>C	C19orf12, LOC130064129	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodegeneration with brain iron accumulation 4 +1 more	GBenign/Likely benign
Select item 328732	NM_031448.6(C19orf12):c.-10-12T>A	C19orf12	Single nucleotide variant (intron variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328731	NM_031448.6(C19orf12):c.68C>T (p.Ala23Val)	C19orf12 (A34V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 43 +2 more	GConflicting classifications of pathogenicity
Select item 328730	NM_031448.6(C19orf12):c.80A>T (p.His27Leu)	C19orf12 (H27L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328729	NM_031448.6(C19orf12):c.*20G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328728	NM_031448.6(C19orf12):c.*47T>C	C19orf12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 328727	NM_031448.6(C19orf12):c.*84C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 328726	NM_031448.6(C19orf12):c.*136C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328725	NM_031448.6(C19orf12):c.*137G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328724	NM_031448.6(C19orf12):c.*308C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328723	NM_031448.6(C19orf12):c.*437C>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328722	NM_031448.6(C19orf12):c.*437C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328721	NM_031448.6(C19orf12):c.*466G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328720	NM_031448.6(C19orf12):c.*471G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328719	NM_031448.6(C19orf12):c.*500G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328718	NM_031448.6(C19orf12):c.*541G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328717	NM_031448.6(C19orf12):c.*718G>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328716	NM_031448.6(C19orf12):c.*791G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328715	NM_031448.6(C19orf12):c.*814G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328714	NM_031448.6(C19orf12):c.*881G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328713	NM_031448.6(C19orf12):c.*944A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328712	NM_031448.6(C19orf12):c.*1020C>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328711	NM_031448.6(C19orf12):c.*1020del	C19orf12	Deletion (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328710	NM_031448.6(C19orf12):c.*1021dup	C19orf12	Duplication (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GLikely benign
Select item 328709	NM_031448.6(C19orf12):c.*1037A>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance
Select item 328708	NM_031448.6(C19orf12):c.*1114C>G	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328707	NM_031448.6(C19orf12):c.*1144C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328706	NM_031448.6(C19orf12):c.*1145G>A	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GBenign
Select item 328705	NM_031448.6(C19orf12):c.*1158C>T	C19orf12	Single nucleotide variant (3 prime UTR variant)	Neurodegeneration with brain iron accumulation 4	GUncertain significance

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