GATAD2A[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 3098771	NM_001384528.1(GATAD2A):c.20G>A (p.Arg7Gln)	GATAD2A (R7Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365075	NM_001384528.1(GATAD2A):c.41C>T (p.Ala14Val)	GATAD2A (A14V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098769	NM_001384528.1(GATAD2A):c.167C>T (p.Pro56Leu)	GATAD2A (P56L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355816	NM_001384528.1(GATAD2A):c.238G>A (p.Asp80Asn)	GATAD2A (D80N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209254	NM_001384528.1(GATAD2A):c.256C>T (p.Arg86Cys)	GATAD2A (R86C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2246062	NM_001384528.1(GATAD2A):c.257G>A (p.Arg86His)	GATAD2A (R86H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603270	NM_001384528.1(GATAD2A):c.270T>C (p.Ser90=)	GATAD2A, LOC126862883	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2392648	NM_001384528.1(GATAD2A):c.283G>A (p.Glu95Lys)	GATAD2A, LOC126862883 (E95K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589716	NM_001384528.1(GATAD2A):c.326A>G (p.Asn109Ser)	GATAD2A, LOC126862883 (N109S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482417	NM_001384528.1(GATAD2A):c.347G>A (p.Arg116Lys)	GATAD2A, LOC126862883 (R116K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098772	NM_001384528.1(GATAD2A):c.409A>T (p.Ser137Cys)	GATAD2A, LOC126862883 (S137C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291115	NM_001384528.1(GATAD2A):c.428G>T (p.Arg143Met)	GATAD2A, LOC126862883 (R143M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410286	NM_001384528.1(GATAD2A):c.502A>G (p.Ser168Gly)	GATAD2A, LOC126862883 (S25G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371844	NM_001384528.1(GATAD2A):c.569C>G (p.Pro190Arg)	GATAD2A (P47R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217143	NM_001384528.1(GATAD2A):c.607G>A (p.Gly203Ser)	GATAD2A (G60S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1705822	NM_001384528.1(GATAD2A):c.626C>T (p.Thr209Ile)	GATAD2A (T179I +2 more)	Single nucleotide variant (missense variant +1 more)	GATAD2A-associated neurodevelopmental disorder	GUncertain significance
Select item 2498143	NM_001384528.1(GATAD2A):c.673C>T (p.Arg225Ter)	GATAD2A (R195* +2 more)	Single nucleotide variant (nonsense +1 more)	GATAD2A-associated neurodevelopmental disorder	GUncertain significance
Select item 2296746	NM_001384528.1(GATAD2A):c.722A>C (p.Gln241Pro)	GATAD2A (Q241P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098773	NM_001384528.1(GATAD2A):c.767G>A (p.Ser256Asn)	GATAD2A (S226N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2318052	NM_001384528.1(GATAD2A):c.910G>A (p.Val304Ile)	GATAD2A (V304I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380217	NM_001384528.1(GATAD2A):c.914A>G (p.Asn305Ser)	GATAD2A (N275S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555735	NM_001384528.1(GATAD2A):c.953C>T (p.Thr318Ile)	GATAD2A (T288I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219137	NM_001384528.1(GATAD2A):c.986C>T (p.Thr329Ile)	GATAD2A (T186I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531716	NM_001384528.1(GATAD2A):c.1031G>A (p.Arg344Gln)	GATAD2A (R314Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517256	NM_001384528.1(GATAD2A):c.1057C>T (p.Arg353Cys)	GATAD2A (R210C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068649	NM_001384528.1(GATAD2A):c.1073A>C (p.Lys358Thr)	GATAD2A (K215T +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2527217	NM_001384528.1(GATAD2A):c.1109C>T (p.Ala370Val)	GATAD2A (A370V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328019	NM_001384528.1(GATAD2A):c.1138G>A (p.Ala380Thr)	GATAD2A (A380T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328941	NM_001384528.1(GATAD2A):c.1153A>C (p.Ile385Leu)	GATAD2A (I385L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361515	NM_001384528.1(GATAD2A):c.1202A>C (p.Gln401Pro)	GATAD2A (Q371P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498144	NM_001384528.1(GATAD2A):c.1208G>T (p.Gly403Val)	GATAD2A (G260V +4 more)	Single nucleotide variant (missense variant +1 more)	GATAD2A-associated neurodevelopmental disorder	GUncertain significance
Select item 3098766	NM_001384528.1(GATAD2A):c.1219G>A (p.Ala407Thr)	GATAD2A (A264T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1705821	NM_001384528.1(GATAD2A):c.1262G>A (p.Cys421Tyr)	GATAD2A (C278Y +4 more)	Single nucleotide variant (missense variant +1 more)	GATAD2A-associated neurodevelopmental disorder	GUncertain significance
Select item 2231209	NM_001384528.1(GATAD2A):c.1289G>A (p.Arg430Gln)	GATAD2A (R287Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242592	NM_001384528.1(GATAD2A):c.1333A>G (p.Thr445Ala)	GATAD2A (T444A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773604	NM_001384528.1(GATAD2A):c.1491C>T (p.Pro497=)	GATAD2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3098767	NM_001384528.1(GATAD2A):c.1517G>A (p.Arg506Gln)	GATAD2A (R363Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237399	NM_001384528.1(GATAD2A):c.1549C>T (p.Arg517Cys)	GATAD2A (R374C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345118	NM_001384528.1(GATAD2A):c.1558A>C (p.Ser520Arg)	GATAD2A (S377R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469317	NM_001384528.1(GATAD2A):c.1597C>T (p.Arg533Trp)	GATAD2A (R390W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405469	NM_001384528.1(GATAD2A):c.1604C>T (p.Ser535Leu)	GATAD2A (S535L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098768	NM_001384528.1(GATAD2A):c.1613C>T (p.Thr538Met)	GATAD2A (T395M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301683	NM_001384528.1(GATAD2A):c.1643C>T (p.Pro548Leu)	GATAD2A (P522L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616364	NM_001384528.1(GATAD2A):c.1676C>T (p.Thr559Ile)	GATAD2A (T529I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230980	NM_001384528.1(GATAD2A):c.1685T>C (p.Val562Ala)	GATAD2A (V537A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208913	NM_001384528.1(GATAD2A):c.1696G>A (p.Gly566Ser)	GATAD2A (G541S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315760	NM_001384528.1(GATAD2A):c.1748A>G (p.Asn583Ser)	GATAD2A (N553S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400349	NM_001384528.1(GATAD2A):c.1787C>T (p.Ala596Val)	GATAD2A (A453V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221455	NM_001384528.1(GATAD2A):c.1787C>G (p.Ala596Gly)	GATAD2A (A566G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525715	NM_001384528.1(GATAD2A):c.1844G>A (p.Arg615Gln)	GATAD2A (R472Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619806	NM_001384528.1(GATAD2A):c.1862T>C (p.Met621Thr)	GATAD2A (M591T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411844	NM_001384528.1(GATAD2A):c.1873C>T (p.Arg625Cys)	GATAD2A (R595C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1705819	NM_001384528.1(GATAD2A):c.1880del (p.Ile627fs)	GATAD2A (I484fs +6 more)	Deletion (frameshift variant +1 more)	GATAD2A-associated neurodevelopmental disorder	GLikely pathogenic
Select item 3098770	NM_001384528.1(GATAD2A):c.1886A>G (p.Gln629Arg)	GATAD2A (Q486R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 689147	GRCh37/hg19 19p13.11(chr19:19567247-19587431)x1	GATAD2A	Copy number loss	not provided	GUncertain significance
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66