ClinVar for Gene (Select 2193) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277728	NM_004461.3(FARSA):c.1007T>C (p.Leu336Pro)	FARSA (L336P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277727	NM_004461.3(FARSA):c.1057A>G (p.Ile353Val)	FARSA (I353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic
Select item 3092917	NM_004461.3(FARSA):c.83C>T (p.Ala28Val)	FARSA, LOC112543454 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092916	NM_004461.3(FARSA):c.82G>T (p.Ala28Ser)	FARSA, LOC112543454 (A28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092915	NM_004461.3(FARSA):c.740C>T (p.Pro247Leu)	FARSA (P247L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092914	NM_004461.3(FARSA):c.430C>T (p.Arg144Trp)	FARSA (R144W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092913	NM_004461.3(FARSA):c.214C>T (p.Arg72Trp)	FARSA, FARSA-AS1 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092912	NM_004461.3(FARSA):c.170C>T (p.Ser57Phe)	FARSA, FARSA-AS1 (S57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092911	NM_004461.3(FARSA):c.1513C>G (p.Gln505Glu)	FARSA (Q505E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092910	NM_004461.3(FARSA):c.112G>A (p.Val38Met)	FARSA, LOC112543454 (V38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092909	NM_004461.3(FARSA):c.1018G>C (p.Ala340Pro)	FARSA (A340P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068613	NM_004461.3(FARSA):c.244C>T (p.Arg82Ter)	FARSA, FARSA-AS1 (R82*)	Single nucleotide variant (nonsense)	Rajab interstitial lung disease with brain calcifications 2	GUncertain significance
Select item 3068592	NM_004461.3(FARSA):c.1040C>T (p.Pro347Leu)	FARSA (P347L)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GLikely pathogenic
Select item 3068268	NM_004461.3(FARSA):c.916G>A (p.Gly306Ser)	FARSA (G306S)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3056955	NM_004461.3(FARSA):c.1131G>A (p.Val377=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GBenign
Select item 3056814	NM_004461.3(FARSA):c.1022A>G (p.Gln341Arg)	FARSA (Q341R)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 3055967	NM_004461.3(FARSA):c.1347C>T (p.Pro449=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GBenign
Select item 3050040	NM_004461.3(FARSA):c.409C>A (p.Gln137Lys)	FARSA (Q137K)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 3049901	NM_004461.3(FARSA):c.813T>C (p.Arg271=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GLikely benign
Select item 3044769	NM_004461.3(FARSA):c.849G>A (p.Ala283=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GBenign
Select item 3039366	NM_004461.3(FARSA):c.613C>T (p.Arg205Trp)	FARSA (R205W)	Single nucleotide variant (missense variant)	FARSA-related disorder	GLikely benign
Select item 3038545	NM_004461.3(FARSA):c.1412T>C (p.Ile471Thr)	FARSA (I471T)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 3034623	NM_004461.3(FARSA):c.1125C>T (p.Gly375=)	FARSA	Single nucleotide variant (synonymous variant)	FARSA-related disorder	GLikely benign
Select item 3034463	NM_004461.3(FARSA):c.1126G>T (p.Val376Leu)	FARSA (V376L)	Single nucleotide variant (missense variant)	FARSA-related disorder	GBenign
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2649359	NM_004461.3(FARSA):c.486G>A (p.Arg162=)	FARSA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2649358	NM_004461.3(FARSA):c.780C>T (p.Asp260=)	FARSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649357	NM_004461.3(FARSA):c.1134G>A (p.Ala378=)	FARSA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593971	NM_004461.3(FARSA):c.341G>A (p.Arg114Gln)	FARSA (R114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536414	NM_004461.3(FARSA):c.160G>A (p.Glu54Lys)	FARSA, FARSA-AS1 (E54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526220	NM_004461.3(FARSA):c.1034T>C (p.Phe345Ser)	FARSA (F345S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525884	NM_004461.3(FARSA):c.413G>A (p.Arg138Gln)	FARSA (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483605	NM_004461.3(FARSA):c.65A>C (p.Asp22Ala)	FARSA, LOC112543454 (D22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 2399873	NM_004461.3(FARSA):c.67A>G (p.Ser23Gly)	FARSA, LOC112543454 (S23G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383257	NM_004461.3(FARSA):c.412C>T (p.Arg138Trp)	FARSA (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353720	NM_004461.3(FARSA):c.416G>A (p.Arg139Gln)	FARSA (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345351	NM_004461.3(FARSA):c.848C>T (p.Ala283Val)	FARSA (A283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344667	NM_004461.3(FARSA):c.653T>G (p.Leu218Arg)	FARSA (L218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344666	NM_004461.3(FARSA):c.523G>C (p.Val175Leu)	FARSA (V175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256827	NM_004461.3(FARSA):c.1325T>C (p.Met442Thr)	FARSA (M442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237392	NM_004461.3(FARSA):c.92G>A (p.Gly31Asp)	FARSA, LOC112543454 (G31D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205811	NM_004461.3(FARSA):c.395T>C (p.Met132Thr)	FARSA (M132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803091	NM_004461.3(FARSA):c.733G>A (p.Glu245Lys)	FARSA (E245K)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GUncertain significance
Select item 1803090	NM_004461.3(FARSA):c.1211G>A (p.Arg404His)	FARSA (R404H)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GUncertain significance
Select item 1685812	NM_004461.3(FARSA):c.812G>A (p.Arg271His)	FARSA (R271H)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GPathogenic
Select item 1511662	NC_000019.9:g.(?_12917488)_(13205463_?)del	KLF1, MAST1 +11 more	Deletion	not provided	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	CALR, DAND5 +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 1255237	NM_004461.3(FARSA):c.1027-17T>C	FARSA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250447	NM_004461.3(FARSA):c.926+15dup	FARSA	Duplication (intron variant)	not provided	GBenign
Select item 977640	NM_004461.3(FARSA):c.1230C>A (p.Asn410Lys)	FARSA (N410K)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GPathogenic
Select item 977639	NM_004461.3(FARSA):c.766T>C (p.Phe256Leu)	FARSA (F256L)	Single nucleotide variant (missense variant)	Rajab interstitial lung disease with brain calcifications 2	GPathogenic
Select item 871679	NM_004461.3(FARSA):c.1012C>T (p.Arg338Cys)	FARSA (R338C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
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 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

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Links from Gene

Items: 75