LOC126806519[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 2214175	NM_052902.4(STK11IP):c.658C>T (p.Arg220Cys)	LOC126806519, STK11IP (R220C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381655	NM_052902.4(STK11IP):c.659G>A (p.Arg220His)	LOC126806519, STK11IP (R220H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2518967	NM_052902.4(STK11IP):c.668T>C (p.Leu223Ser)	LOC126806519, STK11IP (L223S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462900	NM_052902.4(STK11IP):c.694G>T (p.Ala232Ser)	LOC126806519, STK11IP (A232S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607974	NM_052902.4(STK11IP):c.719G>A (p.Arg240Gln)	LOC126806519, STK11IP (R240Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306100	NM_052902.4(STK11IP):c.751G>A (p.Glu251Lys)	LOC126806519, STK11IP (E251K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475804	NM_052902.4(STK11IP):c.845G>T (p.Arg282Leu)	LOC126806519, STK11IP (R282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519017	NM_052902.4(STK11IP):c.868C>G (p.Pro290Ala)	LOC126806519, STK11IP (P290A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance