ClinVar for MedGen (Select 3130) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068201	NM_002653.5(PITX1):c.824G>A (p.Arg275Gln)	PITX1 (R275Q)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 3066116	NM_002653.5(PITX1):c.422G>A (p.Arg141Gln)	PITX1 (R141Q)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 2573048	NM_002653.5(PITX1):c.551G>C (p.Trp184Ser)	PITX1 (W184S)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 2572007	NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)	WAPL (R668C +1 more)	Single nucleotide variant (missense variant)	Polyhydramnios +5 more	GUncertain significance
Select item 2499600	NM_002653.5(PITX1):c.292del (p.Ser98fs)	PITX1 (S98fs)	Deletion (frameshift variant)	Clubfoot	GLikely pathogenic
Select item 1802158	NM_018122.5(DARS2):c.[228-10C>A];[492+2T>C]			Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 1701768	NM_002653.5(PITX1):c.158C>T (p.Thr53Met)	PITX1, PITX1-AS1 (T53M)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 1334403	NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	ATP2B1 (V793L +2 more)	Single nucleotide variant (missense variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1334402	NM_001366521.1(ATP2B1):c.3060+2T>G	ATP2B1	Single nucleotide variant (splice donor variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 1325843	NM_002653.5(PITX1):c.87del (p.Ala30fs)	PITX1, PITX1-AS1 (A30fs)	Deletion (frameshift variant)	Clubfoot	GLikely pathogenic
Select item 1294420	NM_002653.5(PITX1):c.793G>A (p.Gly265Ser)	PITX1 (G265S)	Single nucleotide variant (missense variant)	Brachydactyly-elbow wrist dysplasia syndrome +1 more	GBenign
Select item 1033526	NM_002653.5(PITX1):c.414G>T (p.Lys138Asn)	PITX1 (K138N)	Single nucleotide variant (missense variant)	Clubfoot	GLikely pathogenic
Select item 982686	NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)	UNC13C (R95*)	Single nucleotide variant (nonsense)	Clubfoot +4 more	GUncertain significance
Select item 978675	NM_001384125.1(BLTP1):c.692del (p.Phe231fs)	BLTP1 (F231fs)	Deletion (frameshift variant)	Clubfoot +2 more	GLikely pathogenic
Select item 978640	NM_001384125.1(BLTP1):c.3323+1G>A	BLTP1	Single nucleotide variant (splice donor variant)	Clubfoot +2 more	GLikely pathogenic
Select item 930834	NM_002653.5(PITX1):c.683G>T (p.Ser228Ile)	PITX1 (S228I)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity
Select item 620433	NM_002653.5(PITX1):c.513C>G (p.Tyr171Ter)	PITX1 (Y171*)	Single nucleotide variant (nonsense)	Clubfoot +1 more	GConflicting classifications of pathogenicity
Select item 523500	NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)	KAT6B (T1738I +7 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 523443	NM_001605.3(AARS1):c.2054T>C (p.Val685Ala)	AARS1 (V685A)	Single nucleotide variant (missense variant)	Clubfoot +7 more	GUncertain significance
Select item 523401	NM_001378615.1(CC2D2A):c.1149+1G>A	CC2D2A	Single nucleotide variant (splice donor variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 523352	NM_001009944.3(PKD1):c.12014A>G (p.Gln4005Arg)	PKD1 (Q4004R +1 more)	Single nucleotide variant (missense variant)	Clubfoot +3 more	GUncertain significance
Select item 374067	NM_000093.5(COL5A1):c.2903del (p.Pro968fs)	COL5A1 (P968fs)	Deletion (frameshift variant)	Joint hyperflexibility +9 more	GLikely pathogenic
Select item 374012	NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter)	PLOD2 (R659* +1 more)	Single nucleotide variant (nonsense)	not provided +10 more	GPathogenic/Likely pathogenic
Select item 374011	NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val)	PLOD2 (G454V)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 286868	NM_002653.5(PITX1):c.896G>C (p.Gly299Ala)	PITX1 (G299A)	Single nucleotide variant (missense variant)	Brachydactyly-elbow wrist dysplasia syndrome +3 more	GBenign
Select item 268021	46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn		Complex	Lower limb hypertonia +9 more	GUncertain significance
Select item 268018	46;XY;t(2;10)(p25;q26)dn		Translocation	Joint hypermobility +6 more	GPathogenic
Select item 257000	NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	PKD1 (R2477C)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 183349	NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)	BLTP1 (Y519*)	Single nucleotide variant (nonsense)	Alkuraya-Kucinskas syndrome	GPathogenic
Select item 167818	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	VANGL1 (R175W +1 more)	Single nucleotide variant (missense variant)	Neural tube defect +18 more	GConflicting classifications of pathogenicity
Select item 56312	NM_001378615.1(CC2D2A):c.4179+1del	CC2D2A	Deletion (splice donor variant)	Joubert syndrome 9 +17 more	GPathogenic
Select item 37253	NM_002653.5(PITX1):c.765_799del (p.Ala256fs)	PITX1 (A256fs)	Deletion (frameshift variant)	Clubfoot	GPathogenic
Select item 30473	NM_021625.5(TRPV4):c.947G>A (p.Arg316His)	TRPV4 (R316H +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2C +1 more	GPathogenic/Likely pathogenic
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 7505	NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)	PITX1 (E130K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5302	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	TNFRSF13B (C104R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 2 +22 more	GConflicting classifications of pathogenicity; risk factor
Select item 1062	NM_018122.5(DARS2):c.492+2T>C	DARS2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +15 more	GPathogenic
Select item 1057	NM_018122.5(DARS2):c.228-21_228-20delinsC	DARS2	Indel (intron variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +14 more	GPathogenic
Select item 400	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	INPP5E (R378C)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +19 more	GPathogenic/Likely pathogenic

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Items: 40