ClinVar for Gene (Select 55909) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684534	GRCh37/hg19 8p21.3(chr8:22492103-22913733)x3	BIN3, EGR3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
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 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 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 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 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1341975	GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4	PIWIL2, STC1 +55 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 980854	GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3	ADAM28, ADAM7 +104 more	Copy number gain	not provided	GLikely pathogenic
Select item 776292	NM_018688.6(BIN3):c.297+5C>T	BIN3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688470	GRCh37/hg19 8p21.3-21.2(chr8:21662847-24199218)x1	ADAM28, BIN3 +37 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 686571	GRCh37/hg19 8p21.3(chr8:20564910-22629124)x3	BIN3, BMP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 686366	GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1	ADAM28, ADAM7 +37 more	Copy number loss	not provided	GPathogenic
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 563554	GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3	ADAM28, ADAM7 +124 more	Copy number gain	not provided	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 523288	GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)	CSGALNACT1, SFTPC +77 more	Copy number gain	Autism +7 more	GPathogenic
Select item 443715	GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3	ASAH1-AS1, ATP6V1B2 +129 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 443194	GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3	ADAM18, ADAM2 +186 more	Copy number gain	See cases	GPathogenic
Select item 443001	GRCh37/hg19 8p21.3(chr8:22492051-23039856)x3	BIN3, EGR3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442982	GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3	ADAM28, ADAM7 +123 more	Copy number gain	See cases	GPathogenic
Select item 442673	GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3	BIN3, C8orf58 +14 more	Copy number gain	See cases	GLikely benign
Select item 442330	GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3	ADAM18, ADAM28 +151 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 442157	GRCh37/hg19 8p21.3(chr8:21521340-22492009)x4	BIN3, BMP1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441074	GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1	LEPROTL1, LGI3 +109 more	Copy number loss	not provided	Gnot provided
Select item 395720	GRCh37/hg19 8p22-21.2(chr8:13091530-24483615)	ADAM28, ADAM7 +68 more	Copy number loss	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 394647	GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3	ADAM18, ADAM2 +180 more	Copy number gain	See cases	GPathogenic
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic
Select item 219026	GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3	ADAM28, EXTL3 +73 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic

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