ClinVar for MedGen (Select 307153) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3253648	NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)	MARK2 (Q220* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 3253647	NM_001039469.3(MARK2):c.403G>A (p.Gly135Arg)	MARK2 (G102R +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253646	NM_001039469.3(MARK2):c.337+1G>T	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GPathogenic
Select item 3253645	NM_001039469.3(MARK2):c.288dup (p.Leu97fs)	MARK2 (L64fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253644	NM_001039469.3(MARK2):c.258_259dup (p.Thr87fs)	MARK2 (T54fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253643	NM_001039469.3(MARK2):c.239C>T (p.Ala80Val)	MARK2 (A47V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253642	NM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro)	MARK2 (R685P +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253641	NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)	MARK2 (V673A +4 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253640	NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)	MARK2 (Q668* +4 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 3253639	NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)	MARK2 (C644fs +4 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253638	NM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter)	MARK2 (R600* +2 more)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 3253637	NM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs)	MARK2 (L593fs +1 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 3253636	NM_001039469.3(MARK2):c.1934+1G>A	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253635	NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)	MARK2 (A575fs +3 more)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253634	NM_001039469.3(MARK2):c.1769del (p.Gly590fs)	MARK2 (G535fs +3 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253633	NM_001039469.3(MARK2):c.235-2A>G	MARK2	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253632	NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)	MARK2 (R529* +3 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 3253631	NM_001039469.3(MARK2):c.1516dup (p.Leu506fs)	MARK2 (L472fs +1 more)	Duplication (frameshift variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 3253630	NM_001039469.3(MARK2):c.1514+2T>G	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 3253629	NM_001039469.3(MARK2):c.1181dup (p.Val395fs)	MARK2 (V362fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253628	NM_001039469.3(MARK2):c.1101+1G>A	MARK2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GPathogenic
Select item 3253627	NM_001039469.3(MARK2):c.989-1G>A	MARK2	Single nucleotide variant (splice acceptor variant)	Autism spectrum disorder	GPathogenic
Select item 3253626	NM_001039469.3(MARK2):c.905G>A (p.Arg302Gln)	MARK2 (R269Q +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 3253625	NM_001039469.3(MARK2):c.812del (p.Phe271fs)	MARK2 (F238fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 3253624	NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)	MARK2 (R38* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	MIR484, MIR6506 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024386	GRCh38/hg38 14q21.2-21.3(chr14:46402812-47162762)	LINC00871, LOC126861932 +5 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024385	GRCh38/hg38 5q23.1(chr5:119555413-119745470)	FAM170A, LOC129994462	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024384	GRCh38/hg38 4q35.2(chr4:187200844-188870692)	LINC01060, LINC02374 +27 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 3024383	GRCh38/hg38 15q11.2(chr15:22633497-23084434)	CYFIP1, LOC112272575 +18 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024381	GRCh38/hg38 16p13.11(chr16:15399656-16194269)	ABCC1, ABCC6 +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024380	GRCh38/hg38 3p13(chr3:71518345-71562911)	FOXP1, LOC110121007 +1 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024379	GRCh38/hg38 16p11.2(chr16:28825316-29028291)	ATP2A1, ATP2A1-AS1 +32 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024378	GRCh38/hg38 16p13.2(chr16:8937723-10049200)	LOC130058406, LOC130058407 +33 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024377	GRCh38/hg38 Xq24(chrX:119146025-119709342)	KIAA1210, LINC03098 +38 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024376	GRCh38/hg38 1q31.2-31.3(chr1:193733481-196205927)	LINC01724, LOC121725067 +19 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024375	GRCh38/hg38 7q34(chr7:140901060-141011481)	BRAF, LOC129999507 +1 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	LOC130056751, LOC130056752 +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024373	GRCh38/hg38 17p13.3(chr17:2500691-2687314)	LOC125177406, LOC129390821 +7 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 3024372	GRCh38/hg38 12q24.31(chr12:123141008-123578625)	LOC129390584, LOC130009080 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024371	GRCh38/hg38 7q35(chr7:146320644-146339450)	CNTNAP2	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024370	GRCh38/hg38 7p21.3(chr7:12875659-13231798)	LOC123924905, LOC123924906 +7 more	Copy number loss	Autism spectrum disorder	GLikely benign
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024367	GRCh38/hg38 18p11.21(chr18:12244578-12507815)	AFG3L2, CIDEA +11 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024366	GRCh38/hg38 Xq28(chrX:152819425-152869723)	CETN2, LOC126863347 +2 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 3024365	GRCh38/hg38 11p15.5(chr11:313988-723647)	LRRC56, MIR210 +59 more	Copy number loss	Autism spectrum disorder	GUncertain significance
Select item 3024364	GRCh38/hg38 5p13.2(chr5:33977416-34745466)	AMACR, C1QTNF3 +17 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024352	GRCh38/hg38 7p15.2(chr7:25988742-26495573)	CBX3, HNRNPA2B1 +24 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024351	GRCh38/hg38 5q13.2(chr5:71378409-72329454)	BDP1, CARTPT +20 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024348	GRCh38/hg38 2q13(chr2:109301667-110460985)	LOC112695115, LOC126806305 +33 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 3024346	GRCh38/hg38 2p16.3(chr2:50590007-50802034)	LOC110121071, LOC129388861 +2 more	Copy number loss	Autism spectrum disorder	GLikely pathogenic
Select item 3024212	GRCh38/hg38 10p11.21(chr10:34891282-35211554)	CREM, CUL2 +13 more	Copy number gain	Autism spectrum disorder	GLikely benign
Select item 3024179	NC_000007.14:g.(?_148411122)_(148421361_?)dup	CNTNAP2	Duplication	Autism spectrum disorder	GUncertain significance
Select item 3024178	NC_000023.11:g.(?_100366731)_(100369616_?)del	PCDH19	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024177	NC_000023.11:g.(?_28852188)_(28855815_?)del	IL1RAPL1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024176	NC_000002.12:g.(?_1852302)_(2191394_?)dup	LOC129932982, MYT1L	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3024175	NC_000002.12:g.(?_50574106)_(50580198_?)del	NRXN1	Deletion	Autism spectrum disorder	GUncertain significance
Select item 3024174	NC_000023.11:g.(?_80671287)_(80671570_?)dup	BRWD3	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 3024089	NC_000003.12:g.(?_175372620)_(176011214_?)del	LOC132088905, NAALADL2 +1 more	Deletion	Autism spectrum disorder	GUncertain significance
Select item 2920705	NM_001046.3(SLC12A2):c.1529A>G (p.Asp510Gly)	SLC12A2 (D510G)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2692232	NM_006321.4(ARIH2):c.1411-3C>T	ARIH2	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2664852	NM_001363540.2(DOCK4):c.2689C>T (p.Pro897Ser)	DOCK4 (P897S)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2572602	NC_000009.12:g.27536399C>T	C9orf72	Single nucleotide variant	Autism spectrum disorder	GUncertain significance
Select item 2505115	NM_015080.4(NRXN2):c.5038_5039del (p.Ser1680fs)	NRXN2 (S1449fs +9 more)	Deletion (frameshift variant)	Autism spectrum disorder +1 more	Gnot provided
Select item 2505111	NM_001040142.2(SCN2A):c.3671_3674dup (p.Ala1226fs)	SCN2A (A1226fs)	Microsatellite (frameshift variant)	West syndrome +8 more	Gnot provided
Select item 2505087	NM_001100399.2(PDS5A):c.663_666del (p.Lys222fs)	PDS5A (K222fs)	Microsatellite (frameshift variant)	Autism spectrum disorder	Gnot provided
Select item 2444809	NM_001040142.2(SCN2A):c.208C>G (p.Pro70Ala)	SCN2A (P70A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2431592	NM_032531.4(KIRREL3):c.613C>T (p.Arg205Trp)	KIRREL3 (R205W)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2430111	NM_001256012.3(MYH10):c.3364G>T (p.Glu1122Ter)	MYH10 (E1091* +3 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GUncertain significance
Select item 2430108	NM_001220.5(CAMK2B):c.767A>G (p.Asn256Ser)	CAMK2B (N256S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2430107	NM_001220.5(CAMK2B):c.1528G>T (p.Glu510Ter)	CAMK2B (E510*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2430105	NM_004519.4(KCNQ3):c.1579T>C (p.Phe527Leu)	KCNQ3 (F407L +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2430104	NM_001197104.2(KMT2A):c.9575A>C (p.Gln3192Pro)	KMT2A (Q3189P +2 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 2430103	NM_001197104.2(KMT2A):c.836C>G (p.Ser279Cys)	KMT2A (S279C +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430101	NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)	POGZ (Y378C +5 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2430100	NM_022720.7(DGCR8):c.2060_2061del (p.His687fs)	DGCR8 (H654fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GUncertain significance
Select item 2430096	NM_031206.7(LAS1L):c.949G>A (p.Glu317Lys)	LAS1L (E275K +1 more)	Single nucleotide variant (missense variant +2 more)	Autism spectrum disorder	GUncertain significance
Select item 2430095	NM_001197104.2(KMT2A):c.10835+1G>A	KMT2A	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2430094	NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)	CHD8 (Q1171* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 2430093	NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)	CHD8 (L701fs +1 more)	Indel (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430092	NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)	CHD8 (K249fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430091	NM_014989.7(RIMS1):c.1679-20550G>A	RIMS1	Single nucleotide variant (splice donor variant +1 more)	Autism spectrum disorder	GLikely pathogenic
Select item 2430090	NM_001389617.1(NAV1):c.6015G>A (p.Trp2005Ter)	IPO9-AS1, NAV1 (W1259* +8 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely benign
Select item 2430088	NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)	GABRA5 (Y244H)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430087	NM_006885.4(ZFHX3):c.7090C>G (p.Gln2364Glu)	ZFHX3, ZFHX3-AS1 (Q1450E +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430086	NM_001348800.3(ZBTB20):c.-342-50205del	ZBTB20	Deletion (intron variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2430085	NM_170606.3(KMT2C):c.817G>A (p.Val273Met)	KMT2C (V273M)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GUncertain significance
Select item 2430084	NM_000142.5(FGFR3):c.172G>C (p.Glu58Gln)	FGFR3 (E58Q)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2430083	NM_001162501.2(TNRC6B):c.2641C>T (p.Gln881Ter)	TNRC6B (Q881*)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 2430082	NM_001162501.2(TNRC6B):c.2233G>A (p.Gly745Arg)	TNRC6B (G745R)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2430081	NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)	ANK2 (E1862* +4 more)	Single nucleotide variant (nonsense +1 more)	Autism spectrum disorder	GPathogenic
Select item 2430080	NM_015151.4(DIP2A):c.4446C>G (p.His1482Gln)	DIP2A (H1478Q +3 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430079	NM_001144967.3(NEDD4L):c.2399C>A (p.Thr800Lys)	NEDD4L (T659K +6 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2430078	NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)	NRXN1 (L158fs)	Duplication (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430077	NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)	NRXN1 (E336fs +5 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430076	NM_000944.5(PPP3CA):c.1530_1537dup (p.Asn513fs)	PPP3CA (N461fs +2 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely benign

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