ClinVar for Gene (Select 101928278) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108615	NM_000599.4(IGFBP5):c.50C>G (p.Pro17Arg)	IGFBP-AS1, IGFBP5 (P17R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2621848	NM_000599.4(IGFBP5):c.286G>A (p.Gly96Ser)	IGFBP-AS1, IGFBP5 (G96S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2598971	NM_000599.4(IGFBP5):c.118C>G (p.Pro40Ala)	IGFBP-AS1, IGFBP5 (P40A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2570354	NM_003284.4(TNP1):c.14G>A (p.Arg5His)	TNP1 (R5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551411	NM_000599.4(IGFBP5):c.115C>T (p.Pro39Ser)	IGFBP-AS1, IGFBP5 (P39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348731	NM_003284.4(TNP1):c.34A>G (p.Met12Val)	TNP1 (M12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255258	NM_003284.4(TNP1):c.154C>A (p.Arg52Ser)	TNP1 (R52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244125	NM_003284.4(TNP1):c.97T>C (p.Tyr33His)	TNP1 (Y33H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 153437	GRCh38/hg38 2q35(chr2:216266846-216782346)x3	IGFBP-AS1, IGFBP2 +16 more	Copy number gain	See cases	Gconflicting data from submitters
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 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 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