ClinVar for MedGen (Select 7680) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570687	NM_005245.4(FAT1):c.11518G>A (p.Val3840Met)	FAT1 (V3840M)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2570686	NM_005245.4(FAT1):c.10513A>T (p.Arg3505Trp)	FAT1 (R3505W)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2570678	NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)	SPTBN5 (R430C)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +5 more	GUncertain significance
Select item 2570677	NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	CUL9 (P911L)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +14 more	GUncertain significance
Select item 2570675	NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	CUL9 (R2413W)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +14 more	GUncertain significance
Select item 2570674	NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)	DHX15 (K443E)	Single nucleotide variant (missense variant)	Seizure +7 more	GUncertain significance
Select item 2570672	NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)	KIF13A (K1122E +1 more)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570671	NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)	CSNK1E, TPTEP2-CSNK1E (R178C)	Single nucleotide variant (missense variant)	Seizure +11 more	GUncertain significance
Select item 2570670	NM_014681.6(DHX34):c.3260A>G (p.Glu1087Gly)	DHX34 (E1087G)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 2570669	NM_014681.6(DHX34):c.3160-23_3169del	DHX34	Deletion (splice acceptor variant)	Seizure +1 more	GUncertain significance
Select item 2570668	NM_024657.5(MORC4):c.676A>G (p.Asn226Asp)	MORC4 (N226D)	Single nucleotide variant (missense variant)	Clinodactyly +4 more	GUncertain significance
Select item 2570667	NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter)	FOXO4 (W95* +1 more)	Single nucleotide variant (nonsense)	Clinodactyly +4 more	GUncertain significance
Select item 2570666	NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)	PDE1B (Q66* +2 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2570665	NM_000924.4(PDE1B):c.735+5G>A	PDE1B	Single nucleotide variant (intron variant)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2570664	NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)	SYVN1 (Y23C)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570663	NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)	SYVN1 (A13V)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570654	NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)	WNK3 (R1287fs +1 more)	Duplication (frameshift variant)	Motor stereotypies +8 more	GLikely pathogenic
Select item 2570649	NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)	CAPRIN1 (Q92*)	Single nucleotide variant (nonsense)	Seizure +3 more	GLikely pathogenic
Select item 2537941	NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)	SPTBN5 (E2807K)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1705028	NM_002714.4(PPP1R10):c.1295C>T (p.Ala432Val)	PPP1R10 (A432V)	Single nucleotide variant (missense variant +1 more)	Generalized muscle weakness +3 more	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
Select item 933148	NM_021614.4(KCNN2):c.1890+2T>C	KCNN2, LOC101927078	Single nucleotide variant (splice donor variant)	Autistic behavior +4 more	GLikely pathogenic
Select item 933147	NM_021614.4(KCNN2):c.1798C>G (p.Leu600Val)	KCNN2, LOC101927078 (L40V +2 more)	Single nucleotide variant (missense variant +1 more)	Autistic behavior +2 more	GPathogenic
Select item 870252	NM_003805.5(CRADD):c.2T>G (p.Met1Arg)	CRADD (M1R)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, moderate	GPathogenic
Select item 870251	NM_032147.5(USP44):c.873_886delinsT (p.Leu291fs)	USP44 (L291fs)	Indel (frameshift variant +1 more)	Intellectual disability, moderate	GUncertain significance
Select item 867234	NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)	BRF1 (W103C +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, moderate +6 more	GConflicting classifications of pathogenicity
Select item 812778	NM_006662.3(SRCAP):c.7300G>T (p.Glu2434Ter)	SRCAP (E2434*)	Single nucleotide variant (nonsense)	Intellectual disability, moderate	GLikely pathogenic
Select item 690365	NM_138691.3(TMC1):c.530T>C (p.Ile177Thr)	TMC1 (I177T)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 689477	NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter)	PDE2A (Q387* +3 more)	Single nucleotide variant (nonsense)	EEG abnormality +5 more	GPathogenic
Select item 590777	NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs)	TCF20 (P1203fs)	Duplication (frameshift variant)	Failure to thrive +4 more	GPathogenic
Select item 544681	NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs)	ADGRG1 (A354fs +7 more)	Duplication (frameshift variant)	Macrogyria +7 more	GPathogenic
Select item 523504	NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr)	SCN8A (A855T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 523285	GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)	CDK14, FZD1	Copy number loss	Delayed speech and language development +4 more	GUncertain significance
Select item 523253	GRCh37/hg19 16p11.2(chr16:28861531-29031059)	ATP2A1, CD19 +5 more	Copy number loss	Macular dystrophy +1 more	GPathogenic
Select item 503611	NM_018451.5(CENPJ):c.1132C>T (p.Arg378Ter)	CENPJ (R378*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 427856	NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del)	SCAPER (E620del +4 more)	Microsatellite (inframe_deletion +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +2 more	GPathogenic/Likely pathogenic
Select item 427855	NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn)	SCAPER (S1219N +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +2 more	GPathogenic/Likely pathogenic
Select item 417685	NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs)	SCAPER (I745fs +4 more)	Microsatellite (frameshift variant +1 more)	Attention deficit hyperactivity disorder +2 more	GPathogenic
Select item 374087	NM_001429.4(EP300):c.2053+4A>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +7 more	GUncertain significance
Select item 373939	NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)	AFF2 (H1070R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +6 more	GUncertain significance
Select item 279750	NM_018451.5(CENPJ):c.289dup (p.Thr97fs)	CENPJ (T97fs)	Duplication (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 268032	46;XY;t(2;10)(p15;p14)dn		Translocation	Specific learning disability +9 more	GUncertain significance
Select item 242867	NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter)	ARID1B (Q981* +3 more)	Single nucleotide variant (nonsense)	Blepharophimosis +5 more	GPathogenic
Select item 242866	NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs)	ARID1B (Y715fs +3 more)	Duplication (frameshift variant)	Thick lower lip vermilion +7 more	GPathogenic
Select item 242865	NM_001374828.1(ARID1B):c.2516_2518delinsTCCGCAGCCACTCC (p.Pro839fs)	ARID1B (P6fs +2 more)	Indel (frameshift variant)	Thick lower lip vermilion +5 more	GPathogenic
Select item 242864	NM_001374828.1(ARID1B):c.3577_3578del (p.Lys1193fs)	ARID1B (K360fs +3 more)	Deletion (frameshift variant)	Thick lower lip vermilion +5 more	GPathogenic
Select item 242863	Single allele	TMEM242, ZDHHC14 +2 more	Deletion	Long eyelashes +5 more	GPathogenic
Select item 224082	NM_017886.4(ULK4):c.2056G>A (p.Val686Ile)	ULK4 (V686I +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, moderate +1 more	GLikely benign
Select item 224081	NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter)	ULK4 (R862* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, moderate	GLikely benign
Select item 224080	NM_017886.4(ULK4):c.2887G>A (p.Val963Met)	ULK4 (V963M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, moderate	GLikely benign
Select item 205892	NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)	KCNQ2 (P335L)	Single nucleotide variant (missense variant)	Epicanthus +6 more	GPathogenic/Likely pathogenic
Select item 2530	NM_144596.4(TTC8):c.489G>A (p.Thr163=)	TTC8	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 51 +6 more	GConflicting classifications of pathogenicity

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Items: 52