ZFYVE19[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1908667	NM_018163.3(DNAJC17):c.78+13G>T	DNAJC17, ZFYVE19 (A23D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1909529	NM_018163.3(DNAJC17):c.78+8C>T	DNAJC17, ZFYVE19 (V25I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3084520	NM_018163.3(DNAJC17):c.76G>C (p.Glu26Gln)	DNAJC17, ZFYVE19 (S28C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2879850	NM_018163.3(DNAJC17):c.67_68delinsAA (p.Ala23Lys)	DNAJC17, ZFYVE19 (A31F +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1939944	NM_018163.3(DNAJC17):c.68C>A (p.Ala23Glu)	DNAJC17, ZFYVE19 (A31S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1944826	NM_018163.3(DNAJC17):c.59A>C (p.Glu20Ala)	DNAJC17, ZFYVE19 (E20A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2100716	NM_018163.3(DNAJC17):c.54T>G (p.Ile18Met)	DNAJC17, LOC130056871 +1 more (I18M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2815937	NM_018163.3(DNAJC17):c.49G>A (p.Gly17Ser)	DNAJC17, LOC130056871 +1 more (G17S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1582252	NM_018163.3(DNAJC17):c.45G>A (p.Leu15=)	DNAJC17, LOC130056871 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940596	NM_018163.3(DNAJC17):c.43C>T (p.Leu15=)	DNAJC17, LOC130056871 +1 more (S39N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1981476	NM_018163.3(DNAJC17):c.23T>C (p.Leu8Ser)	DNAJC17, LOC130056871 +1 more (L8S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2200653	NM_018163.3(DNAJC17):c.18G>C (p.Glu6Asp)	DNAJC17, LOC130056871 +1 more (E6D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2040357	NM_018163.3(DNAJC17):c.17A>C (p.Glu6Ala)	DNAJC17, LOC130056871 +1 more (E6A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3193387	NM_001077268.2(ZFYVE19):c.10G>A (p.Asp4Asn)	ZFYVE19 (D4N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591435	NM_001077268.2(ZFYVE19):c.26C>G (p.Pro9Arg)	ZFYVE19 (P9R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362078	NM_001077268.2(ZFYVE19):c.107G>A (p.Gly36Asp)	ZFYVE19 (G36D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193389	NM_001077268.2(ZFYVE19):c.125G>A (p.Gly42Glu)	ZFYVE19 (G42E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538550	NM_001077268.2(ZFYVE19):c.139G>A (p.Gly47Arg)	ZFYVE19 (G47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245598	NM_001077268.2(ZFYVE19):c.203A>T (p.Asp68Val)	ZFYVE19 (D68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686833	NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val)	ZFYVE19	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 9	GPathogenic
Select item 3193390	NM_001077268.2(ZFYVE19):c.253G>A (p.Val85Ile)	ZFYVE19 (V85I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686832	NM_001077268.2(ZFYVE19):c.314C>G (p.Ser105Ter)	ZFYVE19 (S95*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 9	GPathogenic
Select item 2537211	NM_001077268.2(ZFYVE19):c.338C>T (p.Ala113Val)	ZFYVE19 (A103V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3064554	NM_001077268.2(ZFYVE19):c.374G>A (p.Cys125Tyr)	ZFYVE19 (C115Y +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 9	GUncertain significance
Select item 1686836	NM_001077268.2(ZFYVE19):c.379C>T (p.Gln127Ter)	ZFYVE19 (Q117*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 9	GPathogenic
Select item 3193391	NM_001077268.2(ZFYVE19):c.385C>T (p.His129Tyr)	ZFYVE19 (H119Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462539	NM_001077268.2(ZFYVE19):c.416A>G (p.Asn139Ser)	ZFYVE19 (N129S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3064547	NM_001077268.2(ZFYVE19):c.446A>C (p.Tyr149Ser)	ZFYVE19 (Y139S +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis, progressive familial intrahepatic, 9	GUncertain significance
Select item 2524960	NM_001077268.2(ZFYVE19):c.455G>C (p.Arg152Pro)	ZFYVE19 (R152P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1686834	NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter)	ZFYVE19 (R162*)	Single nucleotide variant (nonsense +1 more)	Cholestasis, progressive familial intrahepatic, 9	GPathogenic
Select item 2464770	NM_001077268.2(ZFYVE19):c.529A>T (p.Ile177Phe)	ZFYVE19 (I167F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334593	NM_001077268.2(ZFYVE19):c.538C>T (p.Arg180Cys)	ZFYVE19 (R5C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467384	NM_001077268.2(ZFYVE19):c.539G>A (p.Arg180His)	ZFYVE19 (R170H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686835	NM_001077268.2(ZFYVE19):c.547C>T (p.Arg183Ter)	ZFYVE19 (R173* +1 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 9	GPathogenic
Select item 2570900	NM_001077268.2(ZFYVE19):c.553C>T (p.Arg185Cys)	ZFYVE19 (R10C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3193392	NM_001077268.2(ZFYVE19):c.604C>T (p.Arg202Trp)	ZFYVE19 (R202W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193393	NM_001077268.2(ZFYVE19):c.620A>C (p.Lys207Thr)	ZFYVE19 (K207T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477155	NM_001077268.2(ZFYVE19):c.628C>T (p.Arg210Cys)	ZFYVE19 (R35C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304357	NM_001077268.2(ZFYVE19):c.659T>G (p.Met220Arg)	ZFYVE19 (M45R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686837	NM_001077268.2(ZFYVE19):c.667C>T (p.Arg223Ter)	ZFYVE19 (R213* +1 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 9	GPathogenic
Select item 2339348	NM_001077268.2(ZFYVE19):c.718G>A (p.Ala240Thr)	ZFYVE19 (A65T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041587	NM_001077268.2(ZFYVE19):c.760C>A (p.Gln254Lys)	ZFYVE19 (Q244K +2 more)	Single nucleotide variant (missense variant)	ZFYVE19-related disorder	GLikely benign
Select item 2280108	NM_001077268.2(ZFYVE19):c.763G>A (p.Asp255Asn)	ZFYVE19 (D80N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193394	NM_001077268.2(ZFYVE19):c.773C>T (p.Thr258Met)	ZFYVE19 (T248M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334591	NM_001077268.2(ZFYVE19):c.950G>A (p.Arg317Gln)	ZFYVE19 (R317Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320190	NM_001077268.2(ZFYVE19):c.962C>T (p.Thr321Met)	ZFYVE19 (T321M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256207	NM_001077268.2(ZFYVE19):c.1127C>A (p.Ser376Tyr)	ZFYVE19 (S201Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035438	NM_001077268.2(ZFYVE19):c.1142G>A (p.Ser381Asn)	ZFYVE19 (S206N +3 more)	Single nucleotide variant (missense variant)	ZFYVE19-related disorder	GLikely benign
Select item 2338217	NM_001077268.2(ZFYVE19):c.1166A>T (p.Gln389Leu)	ZFYVE19 (Q214L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193388	NM_001077268.2(ZFYVE19):c.1168G>C (p.Ala390Pro)	ZFYVE19 (A322P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036314	NM_001077268.2(ZFYVE19):c.1174C>T (p.Arg392Ter)	ZFYVE19 (R217* +3 more)	Single nucleotide variant (nonsense)	ZFYVE19-related disorder	GLikely pathogenic
Select item 2365541	NM_001077268.2(ZFYVE19):c.1175G>A (p.Arg392Gln)	ZFYVE19 (R392Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3234179	NM_001077268.2(ZFYVE19):c.1192C>T (p.Arg398Cys)	ZFYVE19 (R223C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3334592	NM_001077268.2(ZFYVE19):c.1231C>A (p.Pro411Thr)	ZFYVE19 (P236T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260055	NM_001077268.2(ZFYVE19):c.1297G>A (p.Ala433Thr)	ZFYVE19 (A365T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478459	NM_001077268.2(ZFYVE19):c.1323T>G (p.Cys441Trp)	ZFYVE19 (C431W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063362	GRCh37/hg19 15q15.1(chr15:40892419-41125118)x3	C15orf62, DNAJC17 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2426451	NC_000015.9:g.(?_41099547)_(41099644_?)del	DNAJC17, ZFYVE19	Deletion	not provided	GUncertain significance
Select item 2424553	NC_000015.9:g.(?_40987528)_(41230232_?)dup	C15orf62, DLL4 +9 more	Duplication	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic

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Items: 68