Related gene-specific medical variations for Gene (Select 84960) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264136	NM_001039374.5(CCDC183):c.1237C>T (p.Leu413Phe)	CCDC183, CCDC183-AS1 (L413F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264135	NM_001039374.5(CCDC183):c.1306G>T (p.Asp436Tyr)	CCDC183, CCDC183-AS1 (D436Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264134	NM_001039374.5(CCDC183):c.1042G>A (p.Ala348Thr)	CCDC183, CCDC183-AS1 (A348T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264133	NM_001039374.5(CCDC183):c.822C>G (p.Asn274Lys)	CCDC183, CCDC183-AS1 (N274K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3264131	NM_001039374.5(CCDC183):c.1295C>T (p.Ser432Phe)	CCDC183, CCDC183-AS1 (S432F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138987	NM_001039374.5(CCDC183):c.995T>C (p.Leu332Pro)	CCDC183, CCDC183-AS1 (L332P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138986	NM_001039374.5(CCDC183):c.932G>A (p.Arg311Gln)	CCDC183, CCDC183-AS1 (R311Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3138985	NM_001039374.5(CCDC183):c.917T>C (p.Val306Ala)	CCDC183, CCDC183-AS1 (V306A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138984	NM_001039374.5(CCDC183):c.764C>G (p.Thr255Arg)	CCDC183, CCDC183-AS1 (T255R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3138979	NM_001039374.5(CCDC183):c.502A>G (p.Ile168Val)	CCDC183, LOC130003039 (I168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138976	NM_001039374.5(CCDC183):c.1510G>A (p.Asp504Asn)	CCDC183, CCDC183-AS1 (D504N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138975	NM_001039374.5(CCDC183):c.1363G>A (p.Val455Met)	CCDC183, CCDC183-AS1 (V455M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2691849	NM_001039374.5(CCDC183):c.886C>T (p.Gln296Ter)	CCDC183, CCDC183-AS1 (Q296*)	Single nucleotide variant (non-coding transcript variant +1 more)	See cases	GLikely pathogenic
Select item 2588638	NM_001039374.5(CCDC183):c.895G>A (p.Val299Met)	CCDC183, CCDC183-AS1 (V299M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2556334	NM_001039374.5(CCDC183):c.1570G>C (p.Gly524Arg)	CCDC183, CCDC183-AS1 (G524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550954	NM_001039374.5(CCDC183):c.1448C>T (p.Thr483Ile)	CCDC183, CCDC183-AS1 (T483I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2548317	NM_001039374.5(CCDC183):c.1088G>T (p.Arg363Leu)	CCDC183, CCDC183-AS1 (R363L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539317	NM_001039374.5(CCDC183):c.1256G>A (p.Gly419Asp)	CCDC183, CCDC183-AS1 (G419D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537165	NM_001039374.5(CCDC183):c.1468C>T (p.Arg490Trp)	CCDC183, CCDC183-AS1 (R490W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531952	NM_001039374.5(CCDC183):c.669G>C (p.Arg223Ser)	CCDC183, CCDC183-AS1 (R223S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513553	NM_001039374.5(CCDC183):c.764C>T (p.Thr255Met)	CCDC183, CCDC183-AS1 (T255M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2510711	NM_001039374.5(CCDC183):c.710G>A (p.Arg237Gln)	CCDC183, CCDC183-AS1 (R237Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2466886	NM_001039374.5(CCDC183):c.1231G>A (p.Asp411Asn)	CCDC183, CCDC183-AS1 (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463450	NM_001039374.5(CCDC183):c.742A>C (p.Lys248Gln)	CCDC183, CCDC183-AS1 (K248Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392398	NM_001039374.5(CCDC183):c.685G>A (p.Glu229Lys)	CCDC183, CCDC183-AS1 (E229K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392126	NM_001039374.5(CCDC183):c.923G>A (p.Ser308Asn)	CCDC183, CCDC183-AS1 (S308N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2392023	NM_001039374.5(CCDC183):c.1099A>T (p.Ser367Cys)	CCDC183, CCDC183-AS1 (S367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360202	NM_001039374.5(CCDC183):c.910G>A (p.Glu304Lys)	CCDC183, CCDC183-AS1 (E304K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358451	NM_001039374.5(CCDC183):c.778G>A (p.Glu260Lys)	CCDC183, CCDC183-AS1 (E260K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2358323	NM_001039374.5(CCDC183):c.910G>C (p.Glu304Gln)	CCDC183, CCDC183-AS1 (E304Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2346393	NM_001039374.5(CCDC183):c.818C>T (p.Ser273Leu)	CCDC183, CCDC183-AS1 (S273L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300615	NM_001039374.5(CCDC183):c.1247G>A (p.Arg416Gln)	CCDC183, CCDC183-AS1 (R416Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294927	NM_001039374.5(CCDC183):c.1261A>G (p.Asn421Asp)	CCDC183, CCDC183-AS1 (N421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291936	NM_001039374.5(CCDC183):c.1180A>G (p.Ser394Gly)	CCDC183, CCDC183-AS1 (S394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267753	NM_001039374.5(CCDC183):c.804C>G (p.Asp268Glu)	CCDC183, CCDC183-AS1 (D268E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2266273	NM_001039374.5(CCDC183):c.519G>T (p.Leu173Phe)	CCDC183, LOC130003039 (L173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259054	NM_001039374.5(CCDC183):c.983C>T (p.Thr328Met)	CCDC183, CCDC183-AS1 (T328M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2253679	NM_001039374.5(CCDC183):c.758T>C (p.Ile253Thr)	CCDC183, CCDC183-AS1 (I253T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2241796	NM_001039374.5(CCDC183):c.1179C>A (p.His393Gln)	CCDC183, CCDC183-AS1 (H393Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216976	NM_001039374.5(CCDC183):c.1271C>A (p.Ala424Glu)	CCDC183, CCDC183-AS1 (A424E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1184863	NM_001039374.5(CCDC183):c.1025G>A (p.Trp342Ter)	CCDC183-AS1, CCDC183 (W342*)	Single nucleotide variant (nonsense)	Essential tremor	GLikely pathogenic

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Links from Gene

Items: 41