Related gene-specific medical variations for Gene (Select 57577) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139044	NM_020817.2(CCDC191):c.8T>C (p.Leu3Pro)	CCDC191, LOC129937266 (L3P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139042	NM_020817.2(CCDC191):c.80C>T (p.Pro27Leu)	CCDC191, LOC129937266 (P27L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139039	NM_020817.2(CCDC191):c.56G>T (p.Arg19Leu)	CCDC191, LOC129937266 (R19L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139037	NM_020817.2(CCDC191):c.2563G>A (p.Asp855Asn)	CCDC191, ZDHHC23 (D833N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139036	NM_020817.2(CCDC191):c.2554G>A (p.Val852Met)	CCDC191, ZDHHC23 (V839M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139030	NM_020817.2(CCDC191):c.1610T>G (p.Leu537Arg)	CCDC191, LOC129937265 (L515R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610853	NM_020817.2(CCDC191):c.2350A>C (p.Met784Leu)	CCDC191, ZDHHC23 (M762L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2609899	NM_020817.2(CCDC191):c.2722C>T (p.Pro908Ser)	CCDC191, ZDHHC23 (P886S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589023	NM_020817.2(CCDC191):c.2363T>C (p.Phe788Ser)	CCDC191, ZDHHC23 (F766S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496023	NM_020817.2(CCDC191):c.2734G>A (p.Val912Ile)	CCDC191, ZDHHC23 (V890I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454323	NM_020817.2(CCDC191):c.2687G>A (p.Arg896Gln)	CCDC191, ZDHHC23 (R896Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402747	NM_020817.2(CCDC191):c.2369G>A (p.Arg790His)	CCDC191, ZDHHC23 (R790H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395081	NM_020817.2(CCDC191):c.2515A>C (p.Lys839Gln)	CCDC191, ZDHHC23 (K817Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387422	NM_020817.2(CCDC191):c.2752G>A (p.Glu918Lys)	CCDC191, ZDHHC23 (E896K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382064	NM_020817.2(CCDC191):c.2429T>C (p.Leu810Pro)	CCDC191, ZDHHC23 (L797P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358771	NM_020817.2(CCDC191):c.2416T>G (p.Tyr806Asp)	CCDC191, ZDHHC23 (Y806D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332295	NM_020817.2(CCDC191):c.2399C>T (p.Ala800Val)	CCDC191, ZDHHC23 (A787V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance