ClinVar for Gene (Select 4858) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368268	NM_002516.4(NOVA2):c.980T>C (p.Leu327Pro)	NOVA2 (L327P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346967	NM_002516.4(NOVA2):c.1210_1211del (p.Ser404fs)	NOVA2 (S404fs)	Microsatellite (frameshift variant)	NOVA2-related disorder	GUncertain significance
Select item 3252546	NM_002516.4(NOVA2):c.102C>A (p.Phe34Leu)	NOVA2 (F34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251662	NM_002516.4(NOVA2):c.1205C>T (p.Ala402Val)	NOVA2 (A402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239059	NM_002516.4(NOVA2):c.991G>A (p.Ala331Thr)	NOVA2 (A331T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3201425	NM_002516.4(NOVA2):c.253G>A (p.Val85Ile)	NOVA2 (V85I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201424	NM_002516.4(NOVA2):c.1099G>C (p.Gly367Arg)	NOVA2 (G367R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068386	NM_002516.4(NOVA2):c.987del (p.Tyr330fs)	NOVA2 (Y330fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GPathogenic
Select item 3065993	NM_002516.4(NOVA2):c.689C>T (p.Pro230Leu)	NOVA2 (P230L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GUncertain significance
Select item 3063924	NM_002516.4(NOVA2):c.1211G>A (p.Ser404Asn)	NOVA2 (S404N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060845	NM_002516.4(NOVA2):c.958GCC[4] (p.Ala324del)	NOVA2 (A324del)	Microsatellite	NOVA2-related disorder	GLikely benign
Select item 3038009	NM_002516.4(NOVA2):c.1152T>G (p.Ala384=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 3037861	NM_002516.4(NOVA2):c.1155A>T (p.Ala385=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 3037475	NM_002516.4(NOVA2):c.1158C>A (p.Ala386=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 3037121	NM_002516.4(NOVA2):c.1131G>C (p.Gly377=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 3030945	NM_002516.4(NOVA2):c.738C>A (p.Ala246=)	NOVA2	Single nucleotide variant (synonymous variant)	NOVA2-related disorder	GLikely benign
Select item 2650139	NM_002516.4(NOVA2):c.204C>A (p.Leu68=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650138	NM_002516.4(NOVA2):c.300C>T (p.Ala100=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650137	NM_002516.4(NOVA2):c.363C>T (p.Pro121=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650136	NM_002516.4(NOVA2):c.948C>T (p.Ala316=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650135	NM_002516.4(NOVA2):c.1174G>A (p.Gly392Arg)	NOVA2 (G392R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630704	NM_002516.4(NOVA2):c.710T>C (p.Val237Ala)	NOVA2 (V237A)	Single nucleotide variant (missense variant)	NOVA2-related disorder	GUncertain significance
Select item 2630361	NM_002516.4(NOVA2):c.1104_1134del (p.Gly369fs)	NOVA2 (G369fs)	Deletion (frameshift variant)	NOVA2-related disorder	GLikely pathogenic
Select item 2622608	NM_002516.4(NOVA2):c.535G>T (p.Val179Leu)	NOVA2 (V179L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578832	NM_002516.4(NOVA2):c.-59CGC[9]	NOVA2	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 2571049	NM_002516.4(NOVA2):c.423G>A (p.Thr141=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559592	NM_002516.4(NOVA2):c.638G>C (p.Ser213Thr)	NOVA2 (S213T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534344	NM_002516.4(NOVA2):c.7C>T (p.Pro3Ser)	NOVA2 (P3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505983	NM_002516.4(NOVA2):c.717_734del (p.Ala244_Ala249del)	NOVA2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2505704	NM_002516.4(NOVA2):c.148A>G (p.Lys50Glu)	NOVA2 (K50E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500426	NM_002516.4(NOVA2):c.761G>C (p.Gly254Ala)	NOVA2 (G254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489731	NM_002516.4(NOVA2):c.331A>G (p.Thr111Ala)	NOVA2 (T111A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442492	NM_002516.4(NOVA2):c.523C>G (p.Leu175Val)	NOVA2 (L175V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434410	NM_002516.4(NOVA2):c.681_682insAGC (p.Thr227_Gly228insSer)	NOVA2	Insertion (inframe_insertion)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GUncertain significance
Select item 2429190	NM_002516.4(NOVA2):c.241C>T (p.Arg81Trp)	NOVA2 (R81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407977	NM_002516.4(NOVA2):c.877A>G (p.Thr293Ala)	NOVA2 (T293A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394371	NM_002516.4(NOVA2):c.716C>A (p.Pro239Gln)	NOVA2 (P239Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394370	NM_002516.4(NOVA2):c.715C>G (p.Pro239Ala)	NOVA2 (P239A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384839	NM_002516.4(NOVA2):c.187G>A (p.Gly63Arg)	NOVA2 (G63R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372632	NM_002516.4(NOVA2):c.596A>G (p.Lys199Arg)	NOVA2 (K199R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352957	NM_002516.4(NOVA2):c.1000G>A (p.Ala334Thr)	NOVA2 (A334T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345301	NM_002516.4(NOVA2):c.1121C>G (p.Ala374Gly)	NOVA2 (A374G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255213	NM_002516.4(NOVA2):c.466G>A (p.Val156Met)	NOVA2 (V156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2168726	NM_002516.4(NOVA2):c.719C>G (p.Ala240Gly)	NOVA2 (A240G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879446	NM_002516.4(NOVA2):c.12G>A (p.Glu4=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1802596	NM_002516.4(NOVA2):c.523del (p.Leu175fs)	NOVA2 (L175fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GPathogenic
Select item 1723715	NM_002516.4(NOVA2):c.227C>T (p.Pro76Leu)	NOVA2 (P76L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712652	NM_002516.4(NOVA2):c.310C>T (p.Arg104Ter)	NOVA2 (R104*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1700488	NM_002516.4(NOVA2):c.1A>G (p.Met1Val)	NOVA2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699936	NM_002516.4(NOVA2):c.729del (p.Ala244fs)	NOVA2 (A244fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1697055	NM_002516.4(NOVA2):c.88G>A (p.Glu30Lys)	NOVA2 (E30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694929	NM_002516.4(NOVA2):c.207C>T (p.Ser69=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1686725	NM_002516.4(NOVA2):c.739G>A (p.Ala247Thr)	NOVA2 (A247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1675751	NM_002516.4(NOVA2):c.371C>T (p.Thr124Met)	NOVA2 (T124M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1675298	NM_002516.4(NOVA2):c.439G>A (p.Gly147Ser)	NOVA2 (G147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391816	NM_002516.4(NOVA2):c.736GCC[5] (p.Ala249dup)	NOVA2	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1326995	NM_002516.4(NOVA2):c.714G>T (p.Leu238=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1326984	NM_002516.4(NOVA2):c.861A>C (p.Ala287=)	NOVA2	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities +1 more	GBenign
Select item 1326304	NM_002516.4(NOVA2):c.826del (p.Leu276fs)	NOVA2 (L276fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GLikely pathogenic
Select item 1298776	NM_002516.4(NOVA2):c.381C>T (p.Pro127=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298775	NM_002516.4(NOVA2):c.755_764del (p.Leu252fs)	NOVA2 (L252fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1298774	NM_002516.4(NOVA2):c.875A>C (p.Asn292Thr)	NOVA2 (N292T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 870459	NM_002516.4(NOVA2):c.720_721insCCGCGGATGTGCTTCCAGCC (p.Ala241fs)	NOVA2 (A241fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 870458	NM_002516.4(NOVA2):c.781del (p.Val261fs)	NOVA2 (V261fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GPathogenic
Select item 870457	NM_002516.4(NOVA2):c.709_748del (p.Val237fs)	NOVA2 (V237fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GPathogenic
Select item 870456	NM_002516.4(NOVA2):c.701_720dup (p.Ala241fs)	NOVA2 (A241fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GPathogenic
Select item 870455	NM_002516.4(NOVA2):c.710_711dup (p.Leu238fs)	NOVA2 (L238fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	GPathogenic
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 812085	NM_002516.4(NOVA2):c.782del (p.Val261fs)	NOVA2 (V261fs)	Deletion (frameshift variant)	Intellectual disability, severe	GPathogenic
Select item 788024	NM_002516.4(NOVA2):c.117C>T (p.Ile39=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788023	NM_002516.4(NOVA2):c.1149C>T (p.Ala383=)	NOVA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564591	GRCh37/hg19 19q13.32(chr19:46192402-46603824)x3	CCDC61, DMPK +14 more	Copy number gain	not provided	GUncertain significance
Select item 564584	GRCh37/hg19 19q13.32(chr19:46361535-46573564)x3	NANOS2, IGFL4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic

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Items: 82