CAMKV[gene] - ClinVar

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Items: 24

	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 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 2342642	NM_024046.5(CAMKV):c.1423G>A (p.Ala475Thr)	CAMKV (A444T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136831	NM_024046.5(CAMKV):c.1385C>T (p.Pro462Leu)	CAMKV (P431L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136830	NM_024046.5(CAMKV):c.1366G>T (p.Ala456Ser)	CAMKV (A425S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512435	NM_024046.5(CAMKV):c.1320G>T (p.Glu440Asp)	CAMKV (E409D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410844	NM_024046.5(CAMKV):c.1313C>T (p.Thr438Ile)	CAMKV (T407I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334272	NM_024046.5(CAMKV):c.1265C>T (p.Thr422Ile)	CAMKV (T391I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236779	NM_024046.5(CAMKV):c.1156G>A (p.Ala386Thr)	CAMKV (A355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303483	NM_024046.5(CAMKV):c.1150C>T (p.Arg384Cys)	CAMKV (R384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269547	NM_024046.5(CAMKV):c.776-18T>C	CAMKV	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297960	NM_024046.5(CAMKV):c.651T>C (p.Asn217=)	CAMKV	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3136832	NM_024046.5(CAMKV):c.587G>A (p.Arg196Gln)	CAMKV (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541431	NM_024046.5(CAMKV):c.585G>T (p.Gln195His)	CAMKV (Q195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476079	NM_024046.5(CAMKV):c.173G>A (p.Arg58Gln)	CAMKV (R58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270206	NM_024046.5(CAMKV):c.27C>T (p.Gly9=)	CAMKV	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2426218	NC_000003.11:g.(?_49866536)_(50540854_?)dup	CACNA2D2, CAMKV +23 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
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: 24