CNBD2[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3158225	NM_033630.3(SCAND1):c.-78C>T	CNBD2, LOC130065772 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3158224	NM_033630.3(SCAND1):c.-78C>G	CNBD2, LOC130065772 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2278039	NM_033630.2(SCAND1):c.46A>G (p.Ser16Gly)	CNBD2, SCAND1 (S16G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2341542	NM_033630.2(SCAND1):c.20G>A (p.Arg7Lys)	CNBD2, LOC130065773 +1 more (R7K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596730	NM_001365709.1(CNBD2):c.13A>T (p.Met5Leu)	CNBD2 (M5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378531	NM_001365709.1(CNBD2):c.22T>C (p.Tyr8His)	CNBD2 (Y8H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2527008	NM_001365709.1(CNBD2):c.116G>T (p.Gly39Val)	CNBD2 (G39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146389	NM_001365709.1(CNBD2):c.125G>A (p.Gly42Glu)	CNBD2 (G42E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386007	NM_001365709.1(CNBD2):c.199C>G (p.Gln67Glu)	CNBD2 (Q67E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509867	NM_001365709.1(CNBD2):c.206G>T (p.Arg69Leu)	CNBD2 (R69L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146395	NM_001365709.1(CNBD2):c.271A>T (p.Ile91Phe)	CNBD2 (I91F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146396	NM_001365709.1(CNBD2):c.286C>A (p.Pro96Thr)	CNBD2 (P96T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592349	NM_001365709.1(CNBD2):c.319G>A (p.Val107Ile)	CNBD2 (V107I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600111	NM_001365709.1(CNBD2):c.352C>T (p.Arg118Trp)	CNBD2 (R118W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518467	NM_001365709.1(CNBD2):c.361G>T (p.Ala121Ser)	CNBD2 (A121S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2412012	NM_001365709.1(CNBD2):c.398G>A (p.Arg133His)	CNBD2 (R133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324458	NM_001365709.1(CNBD2):c.415C>T (p.Arg139Cys)	CNBD2 (R139C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402572	NM_001365709.1(CNBD2):c.416G>A (p.Arg139His)	CNBD2 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353442	NM_001365709.1(CNBD2):c.422G>A (p.Arg141His)	CNBD2 (R141H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146397	NM_001365709.1(CNBD2):c.449G>A (p.Gly150Asp)	CNBD2 (G150D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268076	NM_001365709.1(CNBD2):c.524A>T (p.Asp175Val)	CNBD2 (D175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312798	NM_001365709.1(CNBD2):c.533C>T (p.Pro178Leu)	CNBD2 (P178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476450	NM_001365709.1(CNBD2):c.607G>A (p.Val203Ile)	CNBD2 (V203I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510821	NM_001365709.1(CNBD2):c.614T>C (p.Met205Thr)	CNBD2 (M205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394123	NM_001365709.1(CNBD2):c.643C>T (p.Arg215Trp)	CNBD2 (R215W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461684	NM_001365709.1(CNBD2):c.684G>T (p.Gln228His)	CNBD2 (Q228H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304377	NM_001365709.1(CNBD2):c.833C>A (p.Pro278His)	CNBD2 (P278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146398	NM_001365709.1(CNBD2):c.843G>C (p.Met281Ile)	CNBD2 (M281I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221153	NM_001365709.1(CNBD2):c.872T>C (p.Leu291Pro)	CNBD2 (L291P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305036	NM_001365709.1(CNBD2):c.941A>G (p.Asp314Gly)	CNBD2 (D314G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621650	NM_001365709.1(CNBD2):c.965T>C (p.Leu322Pro)	CNBD2 (L322P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146387	NM_001365709.1(CNBD2):c.1045C>T (p.Leu349Phe)	CNBD2 (L349F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337148	NM_001365709.1(CNBD2):c.1066T>C (p.Trp356Arg)	CNBD2 (W356R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146388	NM_001365709.1(CNBD2):c.1117A>G (p.Thr373Ala)	CNBD2 (T373A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268078	NM_001365709.1(CNBD2):c.1138C>T (p.Pro380Ser)	CNBD2 (P380S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2258067	NM_001365709.1(CNBD2):c.1139C>T (p.Pro380Leu)	CNBD2 (P380L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268077	NM_001365709.1(CNBD2):c.1174T>C (p.Cys392Arg)	CNBD2 (C392R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360987	NM_001365709.1(CNBD2):c.1180A>G (p.Met394Val)	CNBD2 (M394V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409357	NM_001365709.1(CNBD2):c.1234G>A (p.Val412Met)	CNBD2 (V412M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2383091	NM_001365709.1(CNBD2):c.1292C>T (p.Pro431Leu)	CNBD2 (P427L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408686	NM_001365709.1(CNBD2):c.1327A>G (p.Met443Val)	CNBD2 (M443V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2469814	NM_001365709.1(CNBD2):c.1348A>T (p.Ile450Leu)	CNBD2 (I450L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146390	NM_001365709.1(CNBD2):c.1352G>T (p.Arg451Leu)	CNBD2 (R451L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468591	NM_001365709.1(CNBD2):c.1363G>A (p.Glu455Lys)	CNBD2 (E455K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246330	NM_001365709.1(CNBD2):c.1369T>A (p.Phe457Ile)	CNBD2 (F453I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146391	NM_001365709.1(CNBD2):c.1424A>G (p.Asn475Ser)	CNBD2 (N471S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480806	NM_001365709.1(CNBD2):c.1463T>G (p.Phe488Cys)	CNBD2 (F488C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3146392	NM_001365709.1(CNBD2):c.1522C>A (p.Pro508Thr)	CNBD2 (P508T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3268075	NM_001365709.1(CNBD2):c.1552C>T (p.Arg518Trp)	CNBD2 (R514W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2234722	NM_001365709.1(CNBD2):c.1553G>A (p.Arg518Gln)	CNBD2 (R514Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3146393	NM_001365709.1(CNBD2):c.1570A>G (p.Ile524Val)	CNBD2 (I524V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2361730	NM_001365709.1(CNBD2):c.1601T>C (p.Leu534Ser)	CNBD2 (L534S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2318336	NM_001365709.1(CNBD2):c.1631G>A (p.Arg544His)	CNBD2 (R544H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2294654	NM_001365709.1(CNBD2):c.1651C>A (p.Pro551Thr)	CNBD2 (P551T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2547583	NM_001365709.1(CNBD2):c.1669C>A (p.Pro557Thr)	CNBD2 (P553T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3146394	NM_001365709.1(CNBD2):c.1697C>G (p.Ala566Gly)	CNBD2 (A562G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2367986	NM_001365709.1(CNBD2):c.1726G>A (p.Ala576Thr)	CNBD2 (A576T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 564616	GRCh37/hg19 20q11.22-11.23(chr20:34361161-34562300)x3	CNBD2, SCAND1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 67