CBLN3[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	ADCY4, AKAP6 +399 more	Copy number loss	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 2384588	NM_001039771.3(CBLN3):c.554G>A (p.Arg185Gln)	KHNYN, CBLN3 (R185Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221621	NM_001039771.3(CBLN3):c.482C>G (p.Thr161Ser)	KHNYN, CBLN3 (T161S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255659	NM_001039771.3(CBLN3):c.472C>T (p.Pro158Ser)	KHNYN, CBLN3 (P158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235104	NM_001039771.3(CBLN3):c.364G>A (p.Gly122Ser)	CBLN3, KHNYN (G122S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385474	NM_001039771.3(CBLN3):c.361C>T (p.Arg121Trp)	CBLN3, KHNYN (R121W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520770	NM_001039771.3(CBLN3):c.356C>G (p.Pro119Arg)	CBLN3, KHNYN (P119R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338366	NM_001039771.3(CBLN3):c.356C>T (p.Pro119Leu)	KHNYN, CBLN3 (P119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513967	NM_001039771.3(CBLN3):c.349G>A (p.Val117Ile)	CBLN3, KHNYN (V117I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617152	NM_001039771.3(CBLN3):c.331C>T (p.Arg111Trp)	CBLN3, KHNYN (R111W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213944	NM_001039771.3(CBLN3):c.314A>C (p.Glu105Ala)	KHNYN, CBLN3 (E105A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614849	NM_001039771.3(CBLN3):c.295G>A (p.Asp99Asn)	CBLN3, KHNYN (D99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319564	NM_001039771.3(CBLN3):c.260A>G (p.Glu87Gly)	KHNYN, CBLN3 (E87G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618455	NM_001039771.3(CBLN3):c.176C>T (p.Pro59Leu)	CBLN3, KHNYN (P59L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320315	NM_001039771.3(CBLN3):c.131A>C (p.Glu44Ala)	CBLN3, KHNYN (E44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521975	NM_001039771.3(CBLN3):c.110A>C (p.Glu37Ala)	CBLN3, KHNYN (E37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304788	NM_001039771.3(CBLN3):c.88G>A (p.Gly30Arg)	CBLN3, KHNYN (G30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541615	NM_001039771.3(CBLN3):c.83G>T (p.Gly28Val)	CBLN3, KHNYN (G28V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546808	NM_001039771.3(CBLN3):c.19C>T (p.His7Tyr)	CBLN3, KHNYN (H7Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213921	NM_001039771.3(CBLN3):c.7G>A (p.Gly3Arg)	KHNYN, CBLN3 (G3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	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	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
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 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +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	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +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

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Items: 41