ClinVar for Gene (Select 9362) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3496494	NM_006032.4(CPNE6):c.335G>A (p.Cys112Tyr)	CPNE6 (C167Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3496493	NM_006032.4(CPNE6):c.19G>C (p.Gly7Arg)	CPNE6 (G62R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3496491	NM_006032.4(CPNE6):c.187C>A (p.Leu63Ile)	CPNE6 (L63I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3496490	NM_006032.4(CPNE6):c.1555G>A (p.Ala519Thr)	CPNE6 (A574T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3496489	NM_006032.4(CPNE6):c.1106A>G (p.Asn369Ser)	CPNE6, LOC126861900 (N424S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3496488	NM_006032.4(CPNE6):c.1373G>A (p.Arg458His)	CPNE6, LOC126861900 (R513H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3496487	NM_006032.4(CPNE6):c.1330G>A (p.Gly444Ser)	CPNE6, LOC126861900 (G444S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269230	NM_006032.4(CPNE6):c.877C>T (p.His293Tyr)	CPNE6, LOC126861900 (H293Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269229	NM_006032.4(CPNE6):c.721G>A (p.Glu241Lys)	CPNE6 (E241K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269228	NM_006032.4(CPNE6):c.1222G>A (p.Gly408Ser)	CPNE6, LOC126861900 (G463S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269227	NM_006032.4(CPNE6):c.809G>A (p.Arg270Gln)	CPNE6 (R270Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076787	NM_006032.4(CPNE6):c.995G>A (p.Arg332Gln)	CPNE6, LOC126861900 (R332Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076786	NM_006032.4(CPNE6):c.994C>G (p.Arg332Gly)	CPNE6, LOC126861900 (R387G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076785	NM_006032.4(CPNE6):c.270C>A (p.His90Gln)	CPNE6 (H145Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076784	NM_006032.4(CPNE6):c.1627G>A (p.Ala543Thr)	CPNE6 (A543T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076783	NM_006032.4(CPNE6):c.1583G>A (p.Arg528Gln)	CPNE6 (R528Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076780	NM_006032.4(CPNE6):c.1156G>C (p.Glu386Gln)	CPNE6, LOC126861900 (E441Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076779	NM_006032.4(CPNE6):c.1067G>A (p.Arg356Gln)	CPNE6, LOC126861900 (R411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644126	NM_006032.4(CPNE6):c.1582C>A (p.Arg528=)	CPNE6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610065	NM_006032.4(CPNE6):c.130G>A (p.Val44Met)	CPNE6 (V44M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607519	NM_006032.4(CPNE6):c.1628C>T (p.Ala543Val)	CPNE6 (A598V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606740	NM_006032.4(CPNE6):c.1143C>G (p.Asp381Glu)	CPNE6, LOC126861900 (D381E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601895	NM_006032.4(CPNE6):c.1636C>T (p.Pro546Ser)	CPNE6 (P546S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493000	NM_006032.4(CPNE6):c.1439G>A (p.Arg480Gln)	CPNE6, LOC126861900 (R535Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488730	NM_006032.4(CPNE6):c.1273C>G (p.Arg425Gly)	CPNE6, LOC126861900 (R425G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481175	NM_006032.4(CPNE6):c.1288G>A (p.Gly430Ser)	CPNE6, LOC126861900 (G485S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2386360	NM_006032.4(CPNE6):c.842C>T (p.Thr281Met)	CPNE6 (T336M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343444	NM_006032.4(CPNE6):c.1111G>A (p.Glu371Lys)	CPNE6, LOC126861900 (E426K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293553	NM_006032.4(CPNE6):c.995G>C (p.Arg332Pro)	CPNE6, LOC126861900 (R387P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269637	NM_006032.4(CPNE6):c.950A>G (p.Asn317Ser)	CPNE6, LOC126861900 (N317S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249334	NM_006032.4(CPNE6):c.1519T>G (p.Phe507Val)	CPNE6, LOC126861900 (F507V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	MDP1, METTL17 +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 980003	GRCh37/hg19 14q11.2-12(chr14:24163771-24818728)x3	ADCY4, CARMIL3 +31 more	Copy number gain	not provided	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 807188	GRCh37/hg19 14q11.2-12(chr14:24505708-24601038)x1	CARMIL3, CPNE6 +5 more	Copy number loss	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 585064	NM_006032.4(CPNE6):c.881C>T (p.Thr294Ile)	CPNE6, LOC126861900 (T294I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 56