IGFBP6[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 2261822	NM_002178.3(IGFBP6):c.10C>T (p.His4Tyr)	IGFBP6 (H4Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108617	NM_002178.3(IGFBP6):c.29T>C (p.Leu10Pro)	IGFBP6 (L10P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481037	NM_002178.3(IGFBP6):c.164A>G (p.Glu55Gly)	IGFBP6 (E55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203824	NM_002178.3(IGFBP6):c.183G>C (p.Glu61Asp)	IGFBP6 (E61D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485087	NM_002178.3(IGFBP6):c.191T>A (p.Leu64His)	IGFBP6 (L64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491285	NM_002178.3(IGFBP6):c.215G>A (p.Gly72Glu)	IGFBP6 (G72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544496	NM_002178.3(IGFBP6):c.259C>A (p.Pro87Thr)	IGFBP6, LOC130007958 (P87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365436	NM_002178.3(IGFBP6):c.271G>C (p.Glu91Gln)	IGFBP6, LOC130007958 (E91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285537	NM_002178.3(IGFBP6):c.317C>A (p.Pro106Gln)	IGFBP6, LOC130007958 (P106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480529	NM_002178.3(IGFBP6):c.320C>A (p.Ala107Asp)	IGFBP6, LOC130007958 (A107D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513284	NM_002178.3(IGFBP6):c.322C>T (p.Arg108Cys)	IGFBP6, LOC130007958 (R108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285536	NM_002178.3(IGFBP6):c.331G>A (p.Ala111Thr)	IGFBP6, LOC130007958 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 3108618	NM_002178.3(IGFBP6):c.383G>A (p.Arg128His)	IGFBP6 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216647	NM_002178.3(IGFBP6):c.398A>G (p.Asn133Ser)	IGFBP6 (N133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458553	NM_002178.3(IGFBP6):c.400C>T (p.Arg134Cys)	IGFBP6 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507753	NM_002178.3(IGFBP6):c.401G>A (p.Arg134His)	IGFBP6 (R134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108619	NM_002178.3(IGFBP6):c.443C>T (p.Ser148Phe)	IGFBP6 (S148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745959	NM_002178.3(IGFBP6):c.453T>C (p.Asn151=)	IGFBP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791360	NM_002178.3(IGFBP6):c.459G>A (p.Ala153=)	IGFBP6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643043	NM_002178.3(IGFBP6):c.480+4C>T	IGFBP6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2206171	NM_002178.3(IGFBP6):c.491G>A (p.Arg164His)	IGFBP6 (R164H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1205969	NM_002178.3(IGFBP6):c.596G>A (p.Arg199Gln)	IGFBP6 (R199Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 726984	NM_002178.3(IGFBP6):c.615G>C (p.Gln205His)	IGFBP6 (Q205H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3108620	NM_002178.3(IGFBP6):c.622C>T (p.Arg208Cys)	IGFBP6 (R208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774819	NM_002178.3(IGFBP6):c.650G>A (p.Arg217Gln)	IGFBP6 (R217Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2312811	NM_002178.3(IGFBP6):c.680A>G (p.Asp227Gly)	IGFBP6 (D227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 36