28332[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 154800	GRCh38/hg38 3p21.31(chr3:46726614-46968315)x1	CCDC12, LOC112935943 +13 more	Copy number loss	See cases	GPathogenic
Select item 2527783	NM_001277074.2(CCDC12):c.487T>C (p.Cys163Arg)	CCDC12 (C176R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263800	NM_001277074.2(CCDC12):c.389G>A (p.Arg130Gln)	CCDC12 (R143Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622833	NM_001277074.2(CCDC12):c.357T>A (p.Asp119Glu)	CCDC12 (D119E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526208	NM_001277074.2(CCDC12):c.297C>G (p.Ile99Met)	CCDC12 (I112M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138286	NM_001277074.2(CCDC12):c.286G>A (p.Glu96Lys)	CCDC12 (E109K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391042	NM_001277074.2(CCDC12):c.166G>C (p.Glu56Gln)	CCDC12 (E69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138288	NM_001277074.2(CCDC12):c.34G>C (p.Glu12Gln)	CCDC12 (E12Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138287	NM_001277074.2(CCDC12):c.10A>G (p.Thr4Ala)	CCDC12 (T4A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2481164	NM_001277074.2(CCDC12):c.8C>T (p.Ala3Val)	CCDC12 (A16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314490	NM_001277074.2(CCDC12):c.1A>T (p.Met1Leu)	CCDC12 (M14L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309190	NM_144716.6(CCDC12):c.19G>C (p.Gly7Arg)	CCDC12 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1288588	NC_000003.12:g.46979345A>T	CCDC12, NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251507	NC_000003.12:g.46979533A>G	CCDC12, LOC129936658 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248264	NC_000003.12:g.46979634A>G	CCDC12, NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 899579	NM_015175.3(NBEAL2):c.-178G>A	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345608	NM_015175.3(NBEAL2):c.-162C>T	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 899580	NM_015175.3(NBEAL2):c.-120C>G	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345609	NM_015175.3(NBEAL2):c.-76G>A	NBEAL2, CCDC12	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345610	NM_015175.3(NBEAL2):c.-14_-9dup	CCDC12, NBEAL2	Duplication (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 2582769	NM_015175.3(NBEAL2):c.37C>T (p.Leu13Phe)	CCDC12, NBEAL2 (L13F)	Single nucleotide variant (missense variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 753173	NM_015175.3(NBEAL2):c.39C>T (p.Leu13=)	CCDC12, NBEAL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 345611	NM_015175.3(NBEAL2):c.51+11C>T	NBEAL2, CCDC12	Single nucleotide variant (intron variant)	Gray platelet syndrome	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 814440	GRCh37/hg19 3p21.31(chr3:46656350-46990919)x3	ALS2CL, CCDC12 +4 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 31