"Ambry Genetics"[submitter] AND "BIN3"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2514125	NM_018688.6(BIN3):c.754G>A (p.Asp252Asn)	BIN3, CCAR2 (D252N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391814	NM_018688.6(BIN3):c.739C>T (p.Leu247Phe)	BIN3, CCAR2 (L199F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260940	NM_018688.6(BIN3):c.712G>A (p.Glu238Lys)	BIN3, CCAR2 (E190K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260939	NM_018688.6(BIN3):c.704G>A (p.Arg235Gln)	BIN3, CCAR2 (R235Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462179	NM_018688.6(BIN3):c.697C>T (p.Arg233Trp)	BIN3, CCAR2 (R185W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356604	NM_018688.6(BIN3):c.688G>A (p.Asp230Asn)	BIN3, CCAR2 (D182N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2271759	NM_018688.6(BIN3):c.686C>A (p.Ser229Tyr)	BIN3, CCAR2 (S181Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519034	NM_018688.6(BIN3):c.662A>G (p.His221Arg)	BIN3 (H173R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313967	NM_018688.6(BIN3):c.629C>T (p.Ser210Leu)	BIN3 (S162L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393258	NM_018688.6(BIN3):c.608G>A (p.Arg203Gln)	BIN3 (R155Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134010	NM_018688.6(BIN3):c.587C>T (p.Pro196Leu)	BIN3 (P148L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561198	NM_018688.6(BIN3):c.574G>T (p.Asp192Tyr)	BIN3 (D192Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352745	NM_018688.6(BIN3):c.553C>T (p.Arg185Cys)	BIN3 (R185C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248353	NM_018688.6(BIN3):c.551C>T (p.Pro184Leu)	BIN3 (P136L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134008	NM_018688.6(BIN3):c.549G>A (p.Met183Ile)	BIN3 (M183I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315915	NM_018688.6(BIN3):c.541G>A (p.Glu181Lys)	BIN3 (E133K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260938	NM_018688.6(BIN3):c.499C>G (p.Pro167Ala)	BIN3 (P119A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459230	NM_018688.6(BIN3):c.452C>T (p.Thr151Met)	BIN3 (T103M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359369	NM_018688.6(BIN3):c.391G>C (p.Ala131Pro)	BIN3 (A131P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411165	NM_018688.6(BIN3):c.383G>A (p.Arg128Gln)	BIN3 (R128Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215220	NM_018688.6(BIN3):c.361C>T (p.Leu121Phe)	BIN3 (L73F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392415	NM_018688.6(BIN3):c.346A>C (p.Ser116Arg)	BIN3 (S68R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260944	NM_018688.6(BIN3):c.311A>G (p.Gln104Arg)	BIN3 (Q56R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316139	NM_018688.6(BIN3):c.301A>G (p.Asn101Asp)	BIN3 (N101D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260943	NM_018688.6(BIN3):c.287A>G (p.Asn96Ser)	BIN3 (N96S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516100	NM_018688.6(BIN3):c.276G>A (p.Met92Ile)	BIN3 (M92I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459412	NM_018688.6(BIN3):c.272G>C (p.Arg91Pro)	BIN3 (R91P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400190	NM_018688.6(BIN3):c.215G>A (p.Cys72Tyr)	BIN3 (C24Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483339	NM_018688.6(BIN3):c.208C>T (p.Pro70Ser)	BIN3 (P22S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462212	NM_018688.6(BIN3):c.206A>G (p.Asn69Ser)	BIN3 (N21S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308375	NM_018688.6(BIN3):c.184A>T (p.Ile62Leu)	BIN3 (I14L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260942	NM_018688.6(BIN3):c.167C>T (p.Ser56Leu)	BIN3 (S56L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276750	NM_018688.6(BIN3):c.92T>C (p.Leu31Pro)	BIN3 (F4L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33