Related gene-specific medical variations for Gene (Select 84936) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2426451	NC_000015.9:g.(?_41099547)_(41099644_?)del	DNAJC17, ZFYVE19	Deletion	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 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 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 1981476	NM_018163.3(DNAJC17):c.23T>C (p.Leu8Ser)	DNAJC17, LOC130056871 +1 more (L8S)	Single nucleotide variant (5 prime UTR variant +2 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 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 1939944	NM_018163.3(DNAJC17):c.68C>A (p.Ala23Glu)	ZFYVE19, DNAJC17 (A31S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1582252	NM_018163.3(DNAJC17):c.45G>A (p.Leu15=)	DNAJC17, LOC130056871 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign