ClinVar for MedGen (Select 1387412) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251958	NM_017799.4(TMEM260):c.1966dup (p.Arg656fs)	TMEM260 (R656fs)	Duplication (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 3242582	NM_017799.4(TMEM260):c.1519_1522dup (p.Tyr508fs)	TMEM260 (Y508fs)	Duplication (frameshift variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 3233416	NM_017799.4(TMEM260):c.1472G>A (p.Trp491Ter)	TMEM260 (W491*)	Single nucleotide variant (nonsense)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 3233362	NM_017799.4(TMEM260):c.817-9T>A	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 3065317	NM_017799.4(TMEM260):c.74del (p.Gly25fs)	LOC130055718, TMEM260 (G25fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 2664891	NM_017799.4(TMEM260):c.2101C>G (p.Leu701Val)	TMEM260 (L701V)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 2582624	NM_017799.4(TMEM260):c.257del (p.Pro86fs)	TMEM260 (P86fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 2437116	NM_017799.4(TMEM260):c.604C>T (p.Pro202Ser)	TMEM260 (P202S)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 2437115	NM_017799.4(TMEM260):c.529A>G (p.Lys177Glu)	TMEM260 (K177E)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 1992345	NM_017799.4(TMEM260):c.1410C>A (p.Tyr470Ter)	TMEM260 (Y470*)	Single nucleotide variant (nonsense)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1992344	NM_017799.4(TMEM260):c.862del (p.Gln288fs)	TMEM260 (Q288fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1805962	NM_017799.4(TMEM260):c.1783_1795dup (p.Phe599Ter)	TMEM260 (F599*)	Duplication (nonsense)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1342227	NM_017799.4(TMEM260):c.1778+12A>G	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 1342226	NM_017799.4(TMEM260):c.1694G>A (p.Ser565Asn)	TMEM260 (S565N)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 1342225	NM_017799.4(TMEM260):c.858-14A>G	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 1342224	NM_017799.4(TMEM260):c.345-32A>G	TMEM260	Single nucleotide variant (intron variant)	Structural heart defects and renal anomalies syndrome +1 more	GBenign
Select item 1325201	NM_017799.4(TMEM260):c.1694_1698delinsA (p.Ser565fs)	TMEM260 (S565fs)	Indel (frameshift variant)	Structural heart defects and renal anomalies syndrome +1 more	GLikely pathogenic
Select item 1319995	NM_017799.4(TMEM260):c.160+2159_344+1212del	TMEM260	Deletion (splice acceptor variant +1 more)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1319994	NM_017799.4(TMEM260):c.344G>A (p.Arg115Lys)	TMEM260 (R115K)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1264353	NM_017799.4(TMEM260):c.1644del (p.Pro549fs)	TMEM260 (P549fs)	Deletion (frameshift variant)	Type I truncus arteriosus	GPathogenic
Select item 1202619	NM_017799.4(TMEM260):c.1869+1G>A	TMEM260	Single nucleotide variant (splice donor variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 1202618	NM_017799.4(TMEM260):c.1869+1G>T	TMEM260	Single nucleotide variant (splice donor variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 1202597	NM_017799.4(TMEM260):c.1744G>C (p.Glu582Gln)	TMEM260 (E582Q)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 1202596	NM_017799.4(TMEM260):c.193-2A>G	TMEM260	Single nucleotide variant (splice acceptor variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 1175853	NM_017799.4(TMEM260):c.400C>T (p.Arg134Cys)	TMEM260 (R134C)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome +2 more	GUncertain significance
Select item 1033445	NM_017799.4(TMEM260):c.299T>C (p.Leu100Ser)	TMEM260 (L100S)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 1032770	NM_017799.4(TMEM260):c.1781T>C (p.Met594Thr)	TMEM260 (M594T)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 1028062	NM_017799.4(TMEM260):c.649G>C (p.Gly217Arg)	TMEM260 (G217R)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 974872	NM_017799.4(TMEM260):c.1688del (p.Thr563fs)	TMEM260 (T563fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 773280	NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)	TMEM260 (E471K)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome +1 more	GLikely benign
Select item 689638	NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs)	TMEM260 (K696fs)	Microsatellite (frameshift variant)	Structural heart defects and renal anomalies syndrome	GLikely pathogenic
Select item 689637	NM_017799.4(TMEM260):c.377C>T (p.Ala126Val)	TMEM260 (A126V)	Single nucleotide variant (missense variant)	Structural heart defects and renal anomalies syndrome	GUncertain significance
Select item 426076	NM_017799.4(TMEM260):c.1698_1701del (p.Tyr567fs)	TMEM260 (Y567fs)	Deletion (frameshift variant)	Structural heart defects and renal anomalies syndrome	GPathogenic
Select item 426075	NM_017799.4(TMEM260):c.1393C>T (p.Gln465Ter)	TMEM260 (Q465*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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Items: 34