CNBD1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155179	GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3	ATP6V0D2, CA1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 148366	GRCh38/hg38 8q21.3(chr8:86734484-87280161)x1	CNBD1, CNGB3	Copy number loss	See cases	Gconflicting data from submitters
Select item 3268072	NM_173538.3(CNBD1):c.16C>T (p.Leu6Phe)	CNBD1 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384407	NM_173538.3(CNBD1):c.62C>T (p.Pro21Leu)	CNBD1 (P21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268069	NM_173538.3(CNBD1):c.74T>C (p.Leu25Pro)	CNBD1 (L25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391862	NM_173538.3(CNBD1):c.161G>A (p.Arg54Gln)	CNBD1 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595712	NM_173538.3(CNBD1):c.222C>G (p.Phe74Leu)	CNBD1 (F74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520539	NM_173538.3(CNBD1):c.280A>G (p.Asn94Asp)	CNBD1 (N94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268070	NM_173538.3(CNBD1):c.296A>G (p.Glu99Gly)	CNBD1 (E99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397483	NM_173538.3(CNBD1):c.391A>G (p.Thr131Ala)	CNBD1 (T131A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152007	GRCh38/hg38 8q21.3(chr8:87031681-87243497)x1	CNBD1	Copy number loss	See cases	GLikely benign
Select item 153909	GRCh38/hg38 8q21.3(chr8:87104001-87352530)x1	CNBD1	Copy number loss	See cases	GUncertain significance
Select item 3146380	NM_173538.3(CNBD1):c.446C>T (p.Thr149Met)	CNBD1 (T149M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268073	NM_173538.3(CNBD1):c.467T>C (p.Val156Ala)	CNBD1 (V156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613463	NM_173538.3(CNBD1):c.569G>A (p.Gly190Asp)	CNBD1 (G190D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146381	NM_173538.3(CNBD1):c.605T>C (p.Ile202Thr)	CNBD1 (I202T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390465	NM_173538.3(CNBD1):c.682A>G (p.Ile228Val)	CNBD1 (I228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608399	NM_173538.3(CNBD1):c.700A>G (p.Ser234Gly)	CNBD1 (S234G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146382	NM_173538.3(CNBD1):c.707T>C (p.Ile236Thr)	CNBD1 (I236T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257256	NM_173538.3(CNBD1):c.723C>A (p.Phe241Leu)	CNBD1 (F241L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363070	NM_173538.3(CNBD1):c.788C>T (p.Thr263Ile)	CNBD1 (T263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146383	NM_173538.3(CNBD1):c.791T>C (p.Phe264Ser)	CNBD1 (F264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268068	NM_173538.3(CNBD1):c.796A>G (p.Thr266Ala)	CNBD1 (T266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268074	NM_173538.3(CNBD1):c.856G>A (p.Asp286Asn)	CNBD1 (D286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252577	NM_173538.3(CNBD1):c.917T>C (p.Ile306Thr)	CNBD1 (I306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385807	NM_173538.3(CNBD1):c.952C>T (p.Arg318Cys)	CNBD1 (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562125	NM_173538.3(CNBD1):c.986T>C (p.Leu329Ser)	CNBD1 (L329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146384	NM_173538.3(CNBD1):c.997G>C (p.Glu333Gln)	CNBD1 (E333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146386	NM_173538.3(CNBD1):c.998A>T (p.Glu333Val)	CNBD1 (E333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146378	NM_173538.3(CNBD1):c.1124G>A (p.Gly375Glu)	CNBD1 (G375E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306685	NM_173538.3(CNBD1):c.1139G>T (p.Arg380Leu)	CNBD1 (R380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250386	NM_173538.3(CNBD1):c.1168C>T (p.Leu390Phe)	CNBD1 (L390F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211893	NM_173538.3(CNBD1):c.1192G>A (p.Glu398Lys)	CNBD1 (E398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398976	NM_173538.3(CNBD1):c.1207G>C (p.Gly403Arg)	CNBD1 (G403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223525	NM_173538.3(CNBD1):c.1241C>T (p.Thr414Met)	CNBD1 (T414M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262784	NM_173538.3(CNBD1):c.1249A>G (p.Ile417Val)	CNBD1 (I417V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146379	NM_173538.3(CNBD1):c.1268T>A (p.Val423Asp)	CNBD1 (V423D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597739	NM_173538.3(CNBD1):c.1307C>T (p.Ala436Val)	CNBD1 (A436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063037	GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3	ATP6V0D2, CA1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 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 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808479	GRCh37/hg19 8q21.2-21.3(chr8:86841155-88126932)x1	ATP6V0D2, CNBD1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1808058	GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1	ATP6V0D2, CALB1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527452	GRCh37/hg19 8q21.3(chr8:88202737-89170064)	CNBD1, DCAF4L2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527451	GRCh37/hg19 8q21.3(chr8:87660100-88885305)	CNBD1, CNGB3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979842	GRCh37/hg19 8q21.3(chr8:88194550-91779543)x3	NBN, OSGIN2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979840	GRCh37/hg19 8q21.3(chr8:88257878-88328681)x1	CNBD1	Copy number loss	not provided	GLikely benign
Select item 815143	GRCh37/hg19 8q21.3(chr8:88389021-88440493)x1	CNBD1	Copy number loss	not provided	GLikely benign
Select item 688126	GRCh37/hg19 8q21.3(chr8:87982773-88732332)x4	CNBD1	Copy number gain	not provided	GUncertain significance
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 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685054	GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1	ATP6V0D2, CA1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563426	GRCh37/hg19 8q21.3(chr8:87868805-87942903)x1	CNBD1	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 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 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 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	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 394451	GRCh37/hg19 8q21.3(chr8:87991948-88103660)x1	CNBD1	Copy number loss	See cases	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 84