ClinVar for MedGen (Select 481672) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362527	NM_001242957.3(MAK):c.168del (p.Lys56fs)	MAK (K22fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 62	GLikely pathogenic
Select item 2920630	NM_001242957.3(MAK):c.104T>A (p.Met35Lys)	MAK (M1K +1 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 2579195	NM_001242957.3:c.1297_1298insAlu	MAK	Insertion	Retinitis pigmentosa 62	GPathogenic
Select item 1810762	NM_001242957.3(MAK):c.7_10dup (p.Tyr4fs)	MAK (Y4fs)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 62	GPathogenic
Select item 1518471	NM_001242957.3(MAK):c.832-1G>C	MAK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1435408	NM_001242957.3(MAK):c.1143+6T>C	MAK	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326972	NM_001242957.3(MAK):c.1930T>C (p.Tyr644His)	MAK (Y545H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1072281	NM_001242957.3(MAK):c.7C>T (p.Arg3Ter)	MAK (R3*)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 62 +1 more	GPathogenic/Likely pathogenic
Select item 1065774	NM_001242957.3(MAK):c.366dup (p.His123fs)	MAK (H123fs +1 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 62	GLikely pathogenic
Select item 1065773	NM_001242957.3(MAK):c.1143+2_1143+3del	MAK	Microsatellite (splice donor variant)	Retinitis pigmentosa 62	GLikely pathogenic
Select item 1034659	NM_001242957.3(MAK):c.356A>G (p.His119Arg)	MAK (H119R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 951611	NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)	MAK (G587R +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 62 +1 more	GConflicting classifications of pathogenicity
Select item 935229	NM_001242957.3(MAK):c.647T>C (p.Leu216Ser)	MAK (L182S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 866153	NM_001242957.3(MAK):c.1356_1357del (p.Glu454fs)	MAK (E420fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 632469	NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)	MAK (Y566* +1 more)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 62 +2 more	GConflicting classifications of pathogenicity
Select item 354801	NM_001242957.3(MAK):c.843C>T (p.His281=)	MAK	Single nucleotide variant (synonymous variant +1 more)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 354783	NM_001242957.3(MAK):c.1905T>C (p.His635=)	MAK	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 194362	NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)	MAK (I572T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 29784	NM_001242957.3(MAK):c.497G>A (p.Arg166His)	MAK (R166H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 62 +1 more	GPathogenic
Select item 29783	NM_001242957.3(MAK):c.37G>A (p.Gly13Ser)	MAK (G13S)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 29782	NM_001242957.3(MAK):c.388A>C (p.Asn130His)	MAK (N130H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 29781	NM_001242957.3(MAK):c.718C>T (p.Gln240Ter)	MAK (Q240* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 62	GPathogenic
Select item 29780	MAK, 353-BP ALU INS, EX9	MAK	Insertion	Retinitis pigmentosa 62	GPathogenic

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Items: 23