LOC126861124[gene] - ClinVar - NCBI

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Items: 18

	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 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
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 3487247	NM_176875.4(CCKBR):c.763A>T (p.Ser255Cys)	CCKBR, LOC126861124 (S171C +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 3487244	NM_176875.4(CCKBR):c.812G>T (p.Gly271Val)	CCKBR, LOC126861124 (G271V +2 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 3487246	NM_176875.4(CCKBR):c.884T>C (p.Val295Ala)	CCKBR, LOC126861124 (V364A +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