CCDC120[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263803	NM_001163321.4(CCDC120):c.202C>T (p.Arg68Trp)	CCDC120 (R68W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263802	NM_001163321.4(CCDC120):c.352C>T (p.Arg118Cys)	CCDC120 (R118C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211542	NM_001163321.4(CCDC120):c.355C>T (p.Arg119Trp)	CCDC120 (R119W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470776	NM_001163321.4(CCDC120):c.389C>T (p.Pro130Leu)	CCDC120 (P95L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606847	NM_001163321.4(CCDC120):c.466G>A (p.Val156Met)	CCDC120 (V121M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138295	NM_001163321.4(CCDC120):c.481G>A (p.Ala161Thr)	CCDC120 (A114T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305296	NM_001163321.4(CCDC120):c.512C>T (p.Pro171Leu)	CCDC120 (P124L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212526	NM_001163321.4(CCDC120):c.541C>T (p.Arg181Trp)	CCDC120 (R134W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306669	NM_001163321.4(CCDC120):c.569G>C (p.Arg190Thr)	CCDC120 (R143T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660507	NM_001163321.4(CCDC120):c.603T>C (p.Asp201=)	CCDC120	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2237076	NM_001163321.4(CCDC120):c.607C>T (p.Arg203Trp)	CCDC120 (R203W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532689	NM_001163321.4(CCDC120):c.631C>T (p.Leu211Phe)	CCDC120 (L176F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335335	NM_001163321.4(CCDC120):c.635C>T (p.Pro212Leu)	CCDC120 (P177L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381969	NM_001163321.4(CCDC120):c.662C>T (p.Thr221Met)	CCDC120 (T186M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255415	NM_001163321.4(CCDC120):c.701T>C (p.Met234Thr)	CCDC120 (M187T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2217918	NM_001163321.4(CCDC120):c.820C>T (p.Arg274Cys)	CCDC120 (R227C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401281	NM_001163321.4(CCDC120):c.865G>T (p.Gly289Trp)	CCDC120 (G242W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263806	NM_001163321.4(CCDC120):c.932G>A (p.Ser311Asn)	CCDC120 (S264N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489192	NM_001163321.4(CCDC120):c.1007G>A (p.Arg336Gln)	CCDC120 (R289Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138297	NM_001163321.4(CCDC120):c.1024C>T (p.Pro342Ser)	CCDC120 (P342S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263809	NM_001163321.4(CCDC120):c.1025C>T (p.Pro342Leu)	CCDC120 (P295L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460175	NM_001163321.4(CCDC120):c.1042G>A (p.Ala348Thr)	CCDC120 (A301T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518256	NM_001163321.4(CCDC120):c.1093G>A (p.Gly365Ser)	CCDC120 (G330S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350847	NM_001163321.4(CCDC120):c.1127C>T (p.Ala376Val)	CCDC120 (A341V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233196	NM_001163321.4(CCDC120):c.1160T>C (p.Val387Ala)	CCDC120 (V340A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263804	NM_001163321.4(CCDC120):c.1166G>A (p.Arg389His)	CCDC120 (R354H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138289	NM_001163321.4(CCDC120):c.1171C>T (p.Arg391Cys)	CCDC120 (R356C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138290	NM_001163321.4(CCDC120):c.1213G>A (p.Ala405Thr)	CCDC120 (A370T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599547	NM_001163321.4(CCDC120):c.1235C>T (p.Pro412Leu)	CCDC120 (P377L +2 more)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 2509556	NM_001163321.4(CCDC120):c.1271C>A (p.Pro424Gln)	CCDC120 (P389Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550088	NM_001163321.4(CCDC120):c.1309C>G (p.Gln437Glu)	CCDC120 (Q390E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275304	NM_001163321.4(CCDC120):c.1316C>T (p.Thr439Ile)	CCDC120 (T392I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277995	NM_001163321.4(CCDC120):c.1321G>C (p.Ala441Pro)	CCDC120 (A394P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257252	NM_001163321.4(CCDC120):c.1358C>T (p.Pro453Leu)	CCDC120 (P406L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206238	NM_001163321.4(CCDC120):c.1387C>A (p.Pro463Thr)	CCDC120 (P416T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3138291	NM_001163321.4(CCDC120):c.1457G>A (p.Arg486Gln)	CCDC120 (R451Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364325	NM_001163321.4(CCDC120):c.1460G>T (p.Gly487Val)	CCDC120 (G452V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138292	NM_001163321.4(CCDC120):c.1502C>T (p.Pro501Leu)	CCDC120 (P501L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138293	NM_001163321.4(CCDC120):c.1631G>A (p.Arg544His)	CCDC120 (R497H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606131	NM_001163321.4(CCDC120):c.1675G>A (p.Glu559Lys)	CCDC120 (E559K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536267	NM_001163321.4(CCDC120):c.1681C>T (p.Pro561Ser)	CCDC120 (P526S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263808	NM_001163321.4(CCDC120):c.1693C>G (p.Pro565Ala)	CCDC120 (P530A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138294	NM_001163321.4(CCDC120):c.1736C>T (p.Ser579Leu)	CCDC120 (S532L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263807	NM_001163321.4(CCDC120):c.1756C>T (p.His586Tyr)	CCDC120 (H539Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293024	NM_001163321.4(CCDC120):c.1829G>A (p.Arg610His)	CCDC120 (R563H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660508	NM_001163321.4(CCDC120):c.1851G>A (p.Val617=)	CCDC120	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3263801	NM_001163321.4(CCDC120):c.1856C>T (p.Pro619Leu)	CCDC120 (P572L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360141	NM_001163321.4(CCDC120):c.1862A>C (p.His621Pro)	CCDC120 (H574P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48