2657[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 1078878	NM_001492.6(GDF1):c.1104G>A (p.Glu368=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1007022	NM_001492.6(GDF1):c.1102G>A (p.Glu368Lys)	CERS1, GDF1 (E368K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2262848	NM_001492.6(GDF1):c.1096G>T (p.Val366Leu)	CERS1, GDF1 (V366L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1969745	NM_001492.6(GDF1):c.1095G>A (p.Val365=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1507891	NM_001492.6(GDF1):c.1092G>A (p.Met364Ile)	CERS1, GDF1 (M364I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 522570	NM_001492.6(GDF1):c.1090_1092del (p.Met364del)	CERS1, GDF1 (M364del)	Deletion (3 prime UTR variant +1 more)	Right atrial isomerism	GPathogenic
Select item 522571	NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)	CERS1, GDF1 (M364T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 3353344	NM_001492.6(GDF1):c.1087G>C (p.Asp363His)	CERS1, GDF1 (D363H)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 3337141	NM_001492.6(GDF1):c.1076G>A (p.Arg359Gln)	CERS1, GDF1 (R359Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 660810	NM_001492.6(GDF1):c.1075C>T (p.Arg359Trp)	CERS1, GDF1 (R359W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3367614	NM_001492.6(GDF1):c.1066G>A (p.Val356Met)	CERS1, GDF1 (V356M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 998691	NM_001492.6(GDF1):c.1040_1051dup (p.Phe350_Asp351insValLeuPhePhe)	CERS1, GDF1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 410641	NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)	CERS1, GDF1 (F349fs)	Deletion (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6 +1 more	GPathogenic/Likely pathogenic
Select item 471935	NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del)	CERS1, GDF1 (F350del)	Microsatellite (3 prime UTR variant +1 more)	Visceral heterotaxy +1 more	GUncertain significance
Select item 2737779	NM_001492.6(GDF1):c.1043T>C (p.Leu348Pro)	GDF1, CERS1 (L348P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1085392	NM_001492.6(GDF1):c.1041G>T (p.Val347=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 705539	NM_001492.6(GDF1):c.1038C>T (p.Ser346=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2899255	NM_001492.6(GDF1):c.1035C>T (p.Ile345=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 659753	NM_001492.6(GDF1):c.1030C>T (p.Pro344Ser)	CERS1, GDF1 (P344S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 705802	NM_021267.5(CERS1):c.*1298G>A	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 959657	NM_001492.6(GDF1):c.1028C>G (p.Ser343Trp)	CERS1, GDF1 (S343W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1512258	NM_001492.6(GDF1):c.1019C>G (p.Ala340Gly)	GDF1, CERS1 (A340G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2305894	NM_001492.6(GDF1):c.1016C>T (p.Pro339Leu)	CERS1, GDF1 (P339L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1380829	NM_001492.6(GDF1):c.1016C>A (p.Pro339His)	CERS1, GDF1 (P339H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2663905	NM_001492.6(GDF1):c.1008C>G (p.Cys336Trp)	CERS1, GDF1 +1 more (C336W)	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2274259	NM_001492.6(GDF1):c.1001T>G (p.Leu334Arg)	CERS1, GDF1 (L334R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1031988	NM_001492.6(GDF1):c.997G>A (p.Asp333Asn)	CERS1, GDF1 (D333N)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6	GUncertain significance
Select item 1903448	NM_001492.6(GDF1):c.987G>A (p.Pro329=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 471940	NM_001492.6(GDF1):c.985C>T (p.Pro329Ser)	CERS1, GDF1 (P329S)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +2 more	GUncertain significance
Select item 2268631	NM_001492.6(GDF1):c.977C>G (p.Ala326Gly)	CERS1, GDF1 (A326G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 418233	NM_001492.6(GDF1):c.952G>A (p.Ala318Thr)	CERS1, GDF1 (A318T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 3099218	NM_001492.6(GDF1):c.938C>T (p.Pro313Leu)	CERS1, GDF1 (P313L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3018188	NM_001492.6(GDF1):c.933dup (p.Pro312fs)	CERS1, GDF1 (P312fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2629019	NM_001492.6(GDF1):c.934C>G (p.Pro312Ala)	CERS1, GDF1 (P312A)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 2968531	NM_001492.6(GDF1):c.927C>T (p.Ser309=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 220404	NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)	GDF1, CERS1 (S309P)	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8 +2 more	GConflicting classifications of pathogenicity
Select item 471939	NM_001492.6(GDF1):c.912C>G (p.Val304=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 65389	NM_001492.6(GDF1):c.909dup (p.Val304fs)	CERS1, GDF1 (V304fs)	Duplication (3 prime UTR variant +1 more)	Right atrial isomerism +1 more	GPathogenic/Likely pathogenic
Select item 1117643	NM_001492.6(GDF1):c.903G>A (p.Ala301=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1410593	NM_001492.6(GDF1):c.900C>T (p.Cys300=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1297486	NM_001492.6(GDF1):c.891G>C (p.Gln297His)	CERS1, GDF1 (Q297H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1073000	NM_001492.6(GDF1):c.889C>T (p.Gln297Ter)	CERS1, GDF1 (Q297*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 539304	NM_001492.6(GDF1):c.883T>A (p.Tyr295Asn)	CERS1, GDF1 (Y295N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2396179	NM_001492.6(GDF1):c.878C>T (p.Ala293Val)	CERS1, GDF1 (A293V)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder +1 more	GUncertain significance
Select item 2878553	NM_001492.6(GDF1):c.864G>A (p.Pro288=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3355179	NM_001492.6(GDF1):c.861G>A (p.Ala287=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 1301764	NM_021267.5(CERS1):c.*1120G>A	CERS1, GDF1 (W284*)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6	GLikely pathogenic
Select item 2739029	NM_001492.6(GDF1):c.849C>G (p.Arg283=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2785110	NM_001492.6(GDF1):c.834G>A (p.Glu278=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1001308	NM_001492.6(GDF1):c.830G>A (p.Arg277His)	CERS1, GDF1 (R277H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2687842	NM_001492.6(GDF1):c.768_823del (p.Pro257fs)	CERS1, GDF1 (P257fs)	Deletion (3 prime UTR variant +1 more)	not specified	GLikely pathogenic
Select item 3356293	NM_001492.6(GDF1):c.817T>C (p.Tyr273His)	CERS1, GDF1 (Y273H)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 985271	NM_001492.6(GDF1):c.787_814del (p.Pro263fs)	CERS1, GDF1 (P263fs)	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 966764	NM_001492.6(GDF1):c.812G>C (p.Arg271Pro)	CERS1, GDF1 (R271P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2689124	NM_001492.6(GDF1):c.811C>T (p.Arg271Trp)	CERS1, GDF1 (R271W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 418232	NM_001492.6(GDF1):c.776_801del (p.Leu259fs)	CERS1, GDF1 (L259fs)	Deletion (3 prime UTR variant +1 more)	Right atrial isomerism +1 more	GLikely pathogenic
Select item 6748	NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr)	CERS1, GDF1 (C267Y)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 1391444	NM_001492.6(GDF1):c.796G>A (p.Ala266Thr)	CERS1, GDF1 (A266T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 471938	NM_001492.6(GDF1):c.788C>T (p.Pro263Leu)	CERS1, GDF1 (P263L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3342047	NM_001492.6(GDF1):c.786C>T (p.Gly262=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 281627	NM_001492.6(GDF1):c.780C>T (p.Gly260=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2536879	NM_001492.6(GDF1):c.772G>A (p.Val258Met)	CERS1, GDF1 (V258M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1045015	NM_001492.6(GDF1):c.767A>G (p.Glu256Gly)	CERS1, GDF1 (E256G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1464907	NM_001492.6(GDF1):c.765C>A (p.Ala255=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3281109	NM_001492.6(GDF1):c.761A>G (p.Asp254Gly)	CERS1, GDF1 (D254G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2229750	NM_001492.6(GDF1):c.761A>C (p.Asp254Ala)	CERS1, GDF1 (D254A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3068966	NM_001492.6(GDF1):c.757C>T (p.Arg253Cys)	CERS1, GDF1 (R253C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1074441	NM_001492.6(GDF1):c.742dup (p.Leu248fs)	CERS1, GDF1 (L248fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1107557	NM_001492.6(GDF1):c.741C>T (p.Pro247=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2099135	NM_001492.6(GDF1):c.738C>T (p.His246=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1314139	NM_001492.6(GDF1):c.686G>C (p.Arg229Pro)	CERS1, GDF1 (R229P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 6747	NM_001492.6(GDF1):c.681C>A (p.Cys227Ter)	CERS1, GDF1 +1 more (C227*)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-RELATED DISORDERS +3 more	GPathogenic/Likely pathogenic
Select item 1324461	NM_001492.6(GDF1):c.579_678del (p.Val194fs)	CERS1, GDF1 (V194fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 915273	NM_001492.6(GDF1):c.667dup (p.Ala223fs)	CERS1, GDF1 (A223fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3053983	NM_001492.6(GDF1):c.665G>A (p.Arg222Gln)	CERS1, GDF1 (R222Q)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 2338733	NM_001492.6(GDF1):c.661C>G (p.Pro221Ala)	CERS1, GDF1 (P221A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 471937	NM_001492.6(GDF1):c.658C>A (p.Arg220Ser)	GDF1, CERS1 (R220S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2432094	NM_001492.6(GDF1):c.645GGCGCT[1] (p.216AL[1])	CERS1, GDF1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1984258	NM_001492.6(GDF1):c.653C>A (p.Ala218Glu)	CERS1, GDF1 (A218E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1010796	NM_001492.6(GDF1):c.649C>G (p.Leu217Val)	CERS1, GDF1 (L217V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2415645	NM_001492.6(GDF1):c.637C>T (p.Leu213Phe)	CERS1, GDF1 (L213F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1453078	NM_001492.6(GDF1):c.626G>A (p.Trp209Ter)	CERS1, GDF1 (W209*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2630294	NM_001492.6(GDF1):c.620_621delinsTT (p.Ala207Val)	CERS1, GDF1 (A207V)	Indel (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 985628	NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)	CERS1, GDF1 (W203*)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 410639	NM_001492.6(GDF1):c.599G>A (p.Gly200Asp)	CERS1, GDF1 (G200D)	Single nucleotide variant (3 prime UTR variant +1 more)	Right atrial isomerism +3 more	GUncertain significance
Select item 1348662	NM_001492.6(GDF1):c.596T>C (p.Leu199Pro)	CERS1, GDF1 (L199P)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6 +2 more	GUncertain significance
Select item 2230936	NM_001492.6(GDF1):c.587C>G (p.Ala196Gly)	CERS1, GDF1 (A196G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 665854	NM_001492.6(GDF1):c.523_586dup (p.Ala196fs)	CERS1, GDF1 (A196fs)	Duplication (3 prime UTR variant +1 more)	Visceral heterotaxy	GPathogenic
Select item 2504463	NM_001492.6(GDF1):c.586G>A (p.Ala196Thr)	CERS1, GDF1 (A196T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 704741	NM_001492.6(GDF1):c.582G>A (p.Val194=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2620645	NM_001492.6(GDF1):c.575C>T (p.Pro192Leu)	CERS1, GDF1 (P192L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2432096	NM_001492.6(GDF1):c.572G>C (p.Gly191Ala)	CERS1, GDF1 (G191A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1906051	NM_001492.6(GDF1):c.561G>A (p.Val187=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 539305	NM_001492.6(GDF1):c.549C>T (p.Leu183=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3029611	NM_001492.6(GDF1):c.546G>T (p.Leu182=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 2576542	NM_001492.6(GDF1):c.537del (p.Pro180fs)	CERS1, GDF1 (P180fs)	Deletion (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6	GUncertain significance

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