ClinVar for MedGen (Select 1781936) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366982	NM_015465.5(GEMIN5):c.2662G>A (p.Glu888Lys)	GEMIN5 (E887K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3362492	NM_015465.5(GEMIN5):c.76G>A (p.Gly26Ser)	GEMIN5 (G26S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 3254990	NM_015465.5(GEMIN5):c.125G>A (p.Gly42Asp)	GEMIN5 (G42D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2689125	NM_015465.5(GEMIN5):c.4263-4C>G	GEMIN5	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2664207	NM_015465.5(GEMIN5):c.3146C>G (p.Ala1049Gly)	GEMIN5 (A1048G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2584966	NM_015465.5(GEMIN5):c.1919C>T (p.Ala640Val)	GEMIN5 (A639V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2584965	NM_015465.5(GEMIN5):c.2883G>A (p.Trp961Ter)	GEMIN5 (W961* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GLikely pathogenic
Select item 2444257	NM_015465.5(GEMIN5):c.3040C>T (p.Arg1014Trp)	GEMIN5 (R1013W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2442086	NM_015465.5(GEMIN5):c.1979A>T (p.Tyr660Phe)	GEMIN5 (Y659F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2442047	NM_015465.5(GEMIN5):c.2425G>T (p.Val809Phe)	GEMIN5 (V808F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2432110	NM_015465.5(GEMIN5):c.1292C>T (p.Ala431Val)	GEMIN5 (A430V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 2432109	NM_015465.5(GEMIN5):c.4496dup (p.Tyr1499Ter)	GEMIN5 (Y1498* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GConflicting classifications of pathogenicity
Select item 2432107	NM_015465.5(GEMIN5):c.2019_2020delinsTT (p.Glu673_Pro674delinsAspSer)	GEMIN5	Indel (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 1709185	NM_015465.5(GEMIN5):c.3973_3974insC (p.Glu1325fs)	GEMIN5 (E1324fs +1 more)	Insertion (frameshift variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GLikely pathogenic
Select item 1703188	NM_015465.5(GEMIN5):c.1267C>T (p.Gln423Ter)	GEMIN5 (Q422* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GLikely pathogenic
Select item 1695917	NM_015465.5(GEMIN5):c.4378G>A (p.Val1460Met)	GEMIN5 (V1459M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GUncertain significance
Select item 1328172	NM_015465.5(GEMIN5):c.2962A>T (p.Ile988Phe)	GEMIN5 (I987F +1 more)	Single nucleotide variant (missense variant)	GEMIN5-related disorder +3 more	GLikely pathogenic
Select item 1327697	NM_015465.5(GEMIN5):c.3171dup (p.Val1058fs)	GEMIN5 (V1057fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1318721	NM_015465.5(GEMIN5):c.853C>T (p.Leu285Phe)	GEMIN5 (L284F +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction +1 more	GUncertain significance
Select item 1120198	NM_015465.5(GEMIN5):c.3203T>C (p.Leu1068Pro)	GEMIN5 (L1068P +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 1120197	NM_015465.5(GEMIN5):c.2998T>C (p.Ser1000Pro)	GEMIN5 (S999P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 1120196	NM_015465.5(GEMIN5):c.3856T>A (p.Tyr1286Asn)	GEMIN5 (Y1286N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 1120195	NM_015465.5(GEMIN5):c.282G>A (p.Trp94Ter)	GEMIN5 (W94*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 1120194	NM_015465.5(GEMIN5):c.1602C>A (p.Tyr534Ter)	GEMIN5 (Y534* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 1120193	NM_015465.5(GEMIN5):c.3356T>C (p.Leu1119Ser)	GEMIN5 (L1119S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 1120192	NM_015465.5(GEMIN5):c.2738A>G (p.His913Arg)	GEMIN5 (H913R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	GPathogenic
Select item 776084	NM_015465.5(GEMIN5):c.4176A>G (p.Gln1392=)	GEMIN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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Items: 27