Related gene-specific medical variations for Gene (Select 79935) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3487494	NM_024877.4(CCNP):c.502G>A (p.Val168Met)	CCNP, LOC126862910 (V168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350649	NM_024877.4(CCNP):c.426T>C (p.Ala142=)	CCNP, LOC126862910	Single nucleotide variant (synonymous variant)	CCNP-related disorder	GLikely benign
Select item 3264599	NM_024877.4(CCNP):c.302G>C (p.Arg101Pro)	CCNP, LOC126862910 (R101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264597	NM_024877.4(CCNP):c.397G>A (p.Val133Ile)	CCNP, LOC126862910 (V133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139999	NM_024877.4(CCNP):c.503T>C (p.Val168Ala)	CCNP, LOC126862910 (V168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139998	NM_024877.4(CCNP):c.431G>A (p.Arg144His)	CCNP, LOC126862910 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139997	NM_024877.4(CCNP):c.389A>G (p.Tyr130Cys)	CCNP, LOC126862910 (Y130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139996	NM_024877.4(CCNP):c.314C>T (p.Pro105Leu)	CCNP, LOC126862910 (P105L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139995	NM_024877.4(CCNP):c.314C>G (p.Pro105Arg)	CCNP, LOC126862910 (P105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139994	NM_024877.4(CCNP):c.277G>A (p.Val93Met)	CCNP, LOC126862910 (V93M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139993	NM_024877.4(CCNP):c.241G>T (p.Ala81Ser)	CCNP, LOC130064442 (A81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139992	NM_024877.4(CCNP):c.172C>A (p.Arg58Ser)	CCNP, LOC130064442 (R58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139990	NM_024877.4(CCNP):c.152G>A (p.Gly51Asp)	CCNP, LOC130064442 (G51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598283	NM_024877.4(CCNP):c.203C>A (p.Ala68Glu)	CCNP, LOC130064442 (A68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492593	NM_024877.4(CCNP):c.403C>A (p.Leu135Met)	CCNP, LOC126862910 (L135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance