ClinVar for Gene (Select 51411) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134007	NM_016293.4(BIN2):c.97G>C (p.Gly33Arg)	BIN2 (G33R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134005	NM_016293.4(BIN2):c.592C>T (p.Leu198Phe)	BIN2 (L74F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134004	NM_016293.4(BIN2):c.554A>G (p.Glu185Gly)	BIN2 (E185G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134003	NM_016293.4(BIN2):c.284G>A (p.Gly95Asp)	BIN2 (G95D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134001	NM_016293.4(BIN2):c.1355T>C (p.Leu452Ser)	BIN2 (L451S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134000	NM_016293.4(BIN2):c.1150G>A (p.Ala384Thr)	BIN2 (A260T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605904	NM_016293.4(BIN2):c.1184G>A (p.Ser395Asn)	BIN2 (S271N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605520	NM_016293.4(BIN2):c.220A>G (p.Met74Val)	BIN2 (M74V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595312	NM_016293.4(BIN2):c.1048C>G (p.Pro350Ala)	BIN2 (P318A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557170	NM_016293.4(BIN2):c.1694T>C (p.Leu565Pro)	BIN2 (L564P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547506	NM_016293.4(BIN2):c.827C>T (p.Thr276Ile)	BIN2 (T275I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517907	NM_016293.4(BIN2):c.740T>C (p.Phe247Ser)	BIN2 (F123S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515610	NM_016293.4(BIN2):c.835A>C (p.Thr279Pro)	BIN2 (T225P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494562	NM_016293.4(BIN2):c.340G>A (p.Glu114Lys)	BIN2 (E114K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461389	NM_016293.4(BIN2):c.901C>A (p.Pro301Thr)	BIN2 (P177T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408237	NM_016293.4(BIN2):c.838A>T (p.Ser280Cys)	BIN2 (S156C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397070	NM_016293.4(BIN2):c.1244G>A (p.Ser415Asn)	BIN2 (S383N +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363069	NM_016293.4(BIN2):c.1549G>A (p.Glu517Lys)	BIN2 (E517K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341399	NM_016293.4(BIN2):c.730A>T (p.Asn244Tyr)	BIN2 (N218Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312454	NM_016293.4(BIN2):c.1175G>A (p.Arg392His)	BIN2 (R268H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297310	NM_016293.4(BIN2):c.1105T>A (p.Ser369Thr)	BIN2 (S368T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273629	NM_016293.4(BIN2):c.838A>G (p.Ser280Gly)	BIN2 (S248G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226931	NM_016293.4(BIN2):c.273C>G (p.Ser91Arg)	BIN2 (S65R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222594	NM_016293.4(BIN2):c.1114G>A (p.Gly372Arg)	BIN2 (G248R +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209860	NM_016293.4(BIN2):c.1462C>T (p.His488Tyr)	BIN2 (H462Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVR1B, ACVRL1 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33