ClinVar for Gene (Select 3488) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285535	NM_000599.4(IGFBP5):c.640G>A (p.Val214Met)	IGFBP5 (V214M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285534	NM_000599.4(IGFBP5):c.762G>T (p.Met254Ile)	IGFBP5 (M254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285533	NM_000599.4(IGFBP5):c.428G>A (p.Arg143His)	IGFBP5 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3108616	NM_000599.4(IGFBP5):c.527G>A (p.Arg176Gln)	IGFBP5 (R176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2681329	NM_000599.4(IGFBP5):c.810C>T (p.Asn270=)	IGFBP5	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
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 2619240	NM_000599.4(IGFBP5):c.408C>G (p.Ile136Met)	IGFBP5 (I136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612489	NM_000599.4(IGFBP5):c.411C>A (p.Phe137Leu)	IGFBP5 (F137L)	Single nucleotide variant (missense variant)	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 2596022	NM_000599.4(IGFBP5):c.508G>A (p.Glu170Lys)	IGFBP5 (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
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 2406179	NM_000599.4(IGFBP5):c.634C>T (p.Arg212Cys)	IGFBP5 (R212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370512	NM_000599.4(IGFBP5):c.436G>A (p.Glu146Lys)	IGFBP5 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350356	NM_000599.4(IGFBP5):c.413G>A (p.Arg138Gln)	IGFBP5 (R138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215515	NM_000599.4(IGFBP5):c.467G>A (p.Arg156His)	IGFBP5 (R156H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 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 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	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	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

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Links from Gene

Items: 38