CCDC42[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 2618616	NM_144681.3(CCDC42):c.913G>A (p.Glu305Lys)	CCDC42 (E305K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264212	NM_144681.3(CCDC42):c.899C>G (p.Ser300Trp)	CCDC42 (S226W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139168	NM_144681.3(CCDC42):c.896G>A (p.Arg299Gln)	CCDC42 (R299Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513889	NM_144681.3(CCDC42):c.804G>C (p.Gln268His)	CCDC42 (Q194H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326212	NM_144681.3(CCDC42):c.788C>T (p.Thr263Met)	CCDC42 (T263M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264215	NM_144681.3(CCDC42):c.784G>A (p.Ala262Thr)	CCDC42 (A262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619330	NM_144681.3(CCDC42):c.778A>G (p.Lys260Glu)	CCDC42 (K260E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139167	NM_144681.3(CCDC42):c.775A>G (p.Ile259Val)	CCDC42 (I185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292007	NM_144681.3(CCDC42):c.698G>A (p.Ser233Asn)	CCDC42 (S233N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321681	NM_144681.3(CCDC42):c.635A>G (p.Asp212Gly)	CCDC42 (D212G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373616	NM_144681.3(CCDC42):c.620T>C (p.Met207Thr)	CCDC42 (M207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139166	NM_144681.3(CCDC42):c.617A>G (p.Tyr206Cys)	CCDC42 (Y206C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139165	NM_144681.3(CCDC42):c.613C>T (p.Arg205Cys)	CCDC42 (R205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457251	NM_144681.3(CCDC42):c.605G>A (p.Arg202Gln)	CCDC42 (R202Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264214	NM_144681.3(CCDC42):c.545G>A (p.Arg182His)	CCDC42 (R182H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2310725	NM_144681.3(CCDC42):c.496G>A (p.Glu166Lys)	CCDC42 (E166K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319340	NM_144681.3(CCDC42):c.491A>G (p.Glu164Gly)	CCDC42 (E164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381463	NM_144681.3(CCDC42):c.470A>G (p.Glu157Gly)	CCDC42 (E157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139163	NM_144681.3(CCDC42):c.410T>C (p.Leu137Pro)	CCDC42 (L137P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472953	NM_144681.3(CCDC42):c.400G>A (p.Ala134Thr)	CCDC42 (A134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518188	NM_144681.3(CCDC42):c.385A>G (p.Lys129Glu)	CCDC42 (K129E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255119	NM_144681.3(CCDC42):c.319G>A (p.Ala107Thr)	CCDC42 (A107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224813	NM_144681.3(CCDC42):c.311G>A (p.Arg104Gln)	CCDC42 (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139162	NM_144681.3(CCDC42):c.239G>A (p.Gly80Asp)	CCDC42 (G80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299587	NM_144681.3(CCDC42):c.232G>C (p.Glu78Gln)	CCDC42 (E78Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264213	NM_144681.3(CCDC42):c.64C>T (p.Arg22Trp)	CCDC42 (R22W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 1526569	GRCh37/hg19 17p13.1(chr17:7929776-9995862)	ALOX12B, ALOX15B +36 more	Copy number gain	not specified	GUncertain significance
Select item 1526567	GRCh37/hg19 17p13.1(chr17:7241916-8692213)	ACAP1, ALOX12B +65 more	Copy number loss	not specified	GPathogenic
Select item 564397	GRCh37/hg19 17p13.1(chr17:8412394-8729543)x3	CCDC42, MFSD6L +3 more	Copy number gain	not provided	GUncertain significance
Select item 564396	GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3	ARHGEF15, CCDC42 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 442648	GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3	ALOX12B, ALOX15B +61 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 40