CCKBR[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 57953	GRCh38/hg38 11p15.4(chr11:5593209-6447002)x3	APBB1, C11orf42 +59 more	Copy number gain	See cases	GUncertain significance
Select item 2244622	NM_176875.4(CCKBR):c.8T>G (p.Leu3Arg)	CCKBR (L3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486721	NM_176875.4(CCKBR):c.76G>A (p.Ala26Thr)	CCKBR (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723129	NM_176875.4(CCKBR):c.109C>T (p.Leu37Phe)	CCKBR (L37F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2507901	NM_176875.4(CCKBR):c.115T>G (p.Cys39Gly)	CCKBR (C39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247565	NM_176875.4(CCKBR):c.142G>A (p.Gly48Arg)	CCKBR (G48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 2343226	NM_176875.4(CCKBR):c.184G>A (p.Ala62Thr)	CCKBR (A62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234580	NM_176875.4(CCKBR):c.190A>G (p.Ile64Val)	CCKBR (I64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264459	NM_176875.4(CCKBR):c.192C>G (p.Ile64Met)	CCKBR (I64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221978	NM_176875.4(CCKBR):c.218T>C (p.Met73Thr)	CCKBR (M73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527665	NM_176875.4(CCKBR):c.226A>G (p.Ile76Val)	CCKBR (I76V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139696	NM_176875.4(CCKBR):c.229G>T (p.Val77Leu)	CCKBR (V77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207408	NM_176875.4(CCKBR):c.280C>T (p.Leu94Phe)	CCKBR (L94F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139697	NM_176875.4(CCKBR):c.301C>T (p.Leu101Phe)	CCKBR (L101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521501	NM_176875.4(CCKBR):c.317C>T (p.Ala106Val)	CCKBR (A106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769794	NM_176875.4(CCKBR):c.404-10C>G	CCKBR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3139698	NM_176875.4(CCKBR):c.406G>T (p.Val136Leu)	CCKBR (V136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323002	NM_176875.4(CCKBR):c.439G>A (p.Ala147Thr)	CCKBR (A63T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139699	NM_176875.4(CCKBR):c.449T>C (p.Leu150Pro)	CCKBR (L150P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139700	NM_176875.4(CCKBR):c.535T>G (p.Trp179Gly)	CCKBR, LOC126861124 (W179G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139701	NM_176875.4(CCKBR):c.602G>A (p.Arg201His)	CCKBR, LOC126861124 (R117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257649	NM_176875.4(CCKBR):c.662T>C (p.Leu221Pro)	CCKBR, LOC126861124 (L137P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139702	NM_176875.4(CCKBR):c.809C>T (p.Pro270Leu)	CCKBR, LOC126861124 (P186L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139703	NM_176875.4(CCKBR):c.830G>C (p.Gly277Ala)	CCKBR, LOC126861124 (G193A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292640	NM_176875.4(CCKBR):c.832C>A (p.Arg278Ser)	CCKBR, LOC126861124 (R347S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495650	NM_176875.4(CCKBR):c.870C>A (p.Ser290Arg)	CCKBR, LOC126861124 (S206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615085	NM_176875.4(CCKBR):c.877T>C (p.Cys293Arg)	CCKBR, LOC126861124 (C209R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139704	NM_176875.4(CCKBR):c.887A>C (p.Gln296Pro)	CCKBR, LOC126861124 (Q212P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139705	NM_176875.4(CCKBR):c.902G>T (p.Arg301Leu)	CCKBR, LOC126861124 (R217L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510264	NM_176875.4(CCKBR):c.958C>T (p.Pro320Ser)	CCKBR, LOC126861124 (P320S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619432	NM_176875.4(CCKBR):c.1225T>C (p.Cys409Arg)	CCKBR (C409R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298326	NM_176875.4(CCKBR):c.1243G>A (p.Ala415Thr)	CCKBR (A331T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139695	NM_176875.4(CCKBR):c.1319C>T (p.Thr440Ile)	CCKBR (T440I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264458	NM_176875.4(CCKBR):c.1324A>G (p.Ser442Gly)	CCKBR (S511G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1807629	GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	CAVIN3, CCKBR +205 more	Copy number gain	not provided	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1027249	NC_000011.9:g.(?_5709028)_(6640651_?)dup	APBB1, ARFIP2 +31 more	Duplication	not provided	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	CHRNA10, CNGA4 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 689280	GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3	APBB1, ARFIP2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 688908	GRCh37/hg19 11p15.4(chr11:6285216-6361737)x1	CAVIN3, CCKBR	Copy number loss	not provided	GUncertain significance
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic

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Items: 53