LOC100130452[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 2597392	NM_001080539.2(CCDC150):c.1676A>G (p.Tyr559Cys)	CCDC150, LOC100130452 (Y521C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138527	NM_001080539.2(CCDC150):c.1720C>A (p.Gln574Lys)	CCDC150, LOC100130452 (Q242K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263946	NM_001080539.2(CCDC150):c.1727A>G (p.Gln576Arg)	CCDC150, LOC100130452 (Q244R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263947	NM_001080539.2(CCDC150):c.1745G>C (p.Ser582Thr)	CCDC150, LOC100130452 (S582T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520215	NM_001080539.2(CCDC150):c.1754A>G (p.Asn585Ser)	CCDC150, LOC100130452 (N547S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341848	NM_001080539.2(CCDC150):c.1765C>T (p.Arg589Cys)	CCDC150, LOC100130452 (R589C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466955	NM_001080539.2(CCDC150):c.1858C>G (p.Leu620Val)	CCDC150, LOC100130452 (L620V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance