ClinVar for MedGen (Select 811461) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068624	NM_001260.3(CDK8):c.1163C>A (p.Pro388Gln)	CDK8 (P215Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 3068552	NM_000827.4(GRIA1):c.1769G>C (p.Ser590Thr)	GRIA1 (S495T +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 3068545	NM_019096.5(GTPBP2):c.225G>A (p.Val75=)	GTPBP2, POLR1C	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability	GUncertain significance
Select item 3010049	NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 3002153	NM_001371727.1(GABRB2):c.468C>G (p.Thr156=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2992306	NM_001371727.1(GABRB2):c.876C>T (p.Leu292=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2893516	NM_001371727.1(GABRB2):c.541+8G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2893317	NM_001371727.1(GABRB2):c.13C>A (p.Arg5=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2879026	NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys)	GABRB2 (Q25K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2875943	NM_001371727.1(GABRB2):c.378G>A (p.Lys126=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2875868	NM_001371727.1(GABRB2):c.441C>A (p.Thr147=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2872973	NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)	GABRB2 (D397N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2867078	NM_001371727.1(GABRB2):c.377A>G (p.Lys126Arg)	GABRB2 (K126R)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2865028	NM_001371727.1(GABRB2):c.1192-7C>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2864422	NM_001371727.1(GABRB2):c.77+17T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2855151	NM_001371727.1(GABRB2):c.691A>G (p.Arg231Gly)	GABRB2 (R231G)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2853761	NM_001371727.1(GABRB2):c.880dup (p.Glu294fs)	GABRB2 (E294fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 2852744	NM_001371727.1(GABRB2):c.903T>C (p.Tyr301=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2852646	NM_001371727.1(GABRB2):c.833-4dup	GABRB2	Duplication (intron variant)	Intellectual disability	GBenign
Select item 2848197	NM_001371727.1(GABRB2):c.458+4T>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2836698	NM_001371727.1(GABRB2):c.503del (p.Pro168fs)	GABRB2 (P168fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 2836525	NM_001371727.1(GABRB2):c.235A>T (p.Met79Leu)	GABRB2 (M79L)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2835747	NM_001371727.1(GABRB2):c.535G>A (p.Glu179Lys)	GABRB2 (E179K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2831934	NM_001371727.1(GABRB2):c.522C>T (p.Cys174=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2830564	NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)	GABRB2 (E410K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 2830005	NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)	GABRB2 (L259F)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2826325	NM_001371727.1(GABRB2):c.542-3C>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2822076	NM_001371727.1(GABRB2):c.1077+12G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2821042	NM_001371727.1(GABRB2):c.639A>G (p.Val213=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2819929	NM_001371727.1(GABRB2):c.155G>C (p.Arg52Thr)	GABRB2 (R52T)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2817333	NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)	GABRB2 (M393I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2811856	NM_001371727.1(GABRB2):c.170-14G>T	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2811166	NM_001371727.1(GABRB2):c.78-3T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2806381	NM_001371727.1(GABRB2):c.624A>T (p.Pro208=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2806183	NM_001371727.1(GABRB2):c.253A>G (p.Met85Val)	GABRB2 (M85V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2796131	NM_001371727.1(GABRB2):c.237+7A>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2783775	NM_001371727.1(GABRB2):c.238-19T>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2769034	NM_001371727.1(GABRB2):c.237G>A (p.Met79Ile)	GABRB2 (M79I)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2765827	NM_001371727.1(GABRB2):c.1191+13G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2759278	NM_001371727.1(GABRB2):c.813A>C (p.Ser271=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2758666	NM_001371727.1(GABRB2):c.766A>G (p.Ile256Val)	GABRB2 (I256V)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2747340	NM_001371727.1(GABRB2):c.693G>T (p.Arg231Ser)	GABRB2 (R231S)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2737390	NM_001371727.1(GABRB2):c.238-14T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2734811	NM_001371727.1(GABRB2):c.878G>C (p.Arg293Pro)	GABRB2 (R293P)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 2724346	NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe)	GABRB2 (L17F)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2720993	NM_001371727.1(GABRB2):c.1125G>T (p.Leu375Phe)	GABRB2 (L375F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 2709803	NM_001371727.1(GABRB2):c.226G>C (p.Glu76Gln)	GABRB2 (E76Q)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2707130	NM_001371727.1(GABRB2):c.940G>C (p.Val314Leu)	GABRB2 (V314L)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2704709	NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)	GABRB2 (Y510F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2703059	NM_001371727.1(GABRB2):c.224C>T (p.Ser75Phe)	GABRB2 (S75F)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2703056	NM_001371727.1(GABRB2):c.316A>C (p.Thr106Pro)	GABRB2 (T106P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2692893	NM_001371727.1(GABRB2):c.553A>G (p.Thr185Ala)	GABRB2 (T185A)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2674597	NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)	ZFHX3, ZFHX3-AS1 (Q1221H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2674594	NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)	TCF7L2 (K96N)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2672314	NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)	BCL11A (S328fs +6 more)	Deletion (frameshift variant +2 more)	Intellectual disability	GLikely pathogenic
Select item 2672313	GRCh38/hg38 Xp11.22(chrX:54038034-54049437)x0	LOC125467754, LOC130068317 +3 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2672312	NC_000021.9:g.33542069_33544417del	GART, LOC130066566 +2 more	Deletion (genic upstream transcript variant)	Intellectual disability	GLikely pathogenic
Select item 2672310	GRCh38/hg38 Xq12(chrX:68203479-68224263)x2	OPHN1	Copy number gain	Intellectual disability	GLikely pathogenic
Select item 2664825	NM_001199298.2(UIMC1):c.1732del (p.His578fs)	UIMC1 (H412fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability	GUncertain significance
Select item 2580160	NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)	RBFOX1 (Y366D +15 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2504577	NM_020132.5(AGPAT3):c.747C>A (p.Tyr249Ter)	AGPAT3 (Y187* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 2500344	NM_001042603.3(KDM5A):c.4283G>T (p.Arg1428Leu)	KDM5A (R1428L)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 2500343	NM_001042603.3(KDM5A):c.1A>T (p.Met1Leu)	KDM5A (M1L)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GLikely pathogenic
Select item 2430065	NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)	TCF4 (G284V +13 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2429788	NM_006924.5(SRSF1):c.601del (p.Ser201fs)	LOC126862603, SRSF1 (S201fs)	Deletion (3 prime UTR variant +2 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429787	NM_006924.5(SRSF1):c.97G>T (p.Glu33Ter)	SRSF1 (E33*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429786	NM_006924.5(SRSF1):c.119G>T (p.Gly40Val)	SRSF1 (G40V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GPathogenic
Select item 2429785	NM_006924.5(SRSF1):c.548A>G (p.His183Arg)	LOC126862603, SRSF1 (H183R)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GUncertain significance
Select item 2429784	NM_006924.5(SRSF1):c.82C>T (p.Arg28Ter)	SRSF1 (R28*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	OR4D2, SUPT4H1 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429782	NM_006924.5(SRSF1):c.579dup (p.Val194fs)	LOC126862603, SRSF1 (V194fs)	Duplication (3 prime UTR variant +2 more)	Intellectual disability +1 more	GPathogenic
Select item 2429781	NM_006924.5(SRSF1):c.478G>A (p.Val160Met)	LOC126862603, SRSF1 (V160M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GPathogenic
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	MRPS23, MSI2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429779	NM_006924.5(SRSF1):c.130G>A (p.Asp44Asn)	SRSF1 (D44N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2429778	NM_006924.5(SRSF1):c.251T>G (p.Leu84Arg)	SRSF1 (L84R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GPathogenic
Select item 2429777	NM_006924.5(SRSF1):c.231T>G (p.Tyr77Ter)	SRSF1 (Y77*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429776	NM_006924.5(SRSF1):c.208G>A (p.Ala70Thr)	SRSF1 (A70T)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429775	NM_006924.5(SRSF1):c.377_378del (p.Ser126fs)	SRSF1 (S126fs)	Microsatellite (frameshift variant +1 more)	Neurodevelopmental delay +1 more	GPathogenic
Select item 2426686	NC_000005.9:g.(?_160721088)_(161324428_?)dup	GABRA1, GABRA6 +1 more	Duplication	Intellectual disability	GUncertain significance
Select item 2419939	NM_001371727.1(GABRB2):c.458+20A>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2413631	NM_001371727.1(GABRB2):c.207C>T (p.Ala69=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2202069	NM_001371727.1(GABRB2):c.1192-3C>T	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GBenign
Select item 2201161	NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)	GABRB2 (D125N)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 2183292	NM_001371727.1(GABRB2):c.1008A>T (p.Gln336His)	GABRB2 (Q336H)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2176717	NM_001371727.1(GABRB2):c.1065G>A (p.Leu355=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2175003	NM_001371727.1(GABRB2):c.1257G>A (p.Glu419=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2157897	NM_001371727.1(GABRB2):c.490C>T (p.Leu164=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2155596	NM_001371727.1(GABRB2):c.1077+14G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2151058	NM_001371727.1(GABRB2):c.201C>T (p.Asp67=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2141008	NM_001371727.1(GABRB2):c.169+5T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GBenign
Select item 2134894	NM_001371727.1(GABRB2):c.142G>C (p.Asp48His)	GABRB2 (D48H)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2134516	NM_001371727.1(GABRB2):c.366C>T (p.Phe122=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2125918	NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)	GABRB2 (R293Q)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2121981	NM_001371727.1(GABRB2):c.798T>G (p.Ile266Met)	GABRB2 (I266M)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2120508	NM_001371727.1(GABRB2):c.841A>G (p.Thr281Ala)	GABRB2 (T281A)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2116640	NM_001371727.1(GABRB2):c.95A>G (p.Asn32Ser)	GABRB2 (N32S)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2111767	NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr)	GABRB2 (A24T)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 2108721	NM_001371727.1(GABRB2):c.1118G>T (p.Arg373Leu)	GABRB2 (R373L)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 2102801	NM_001371727.1(GABRB2):c.1301A>T (p.Tyr434Phe)	GABRB2 (Y396F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign

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