ClinVar for MedGen (Select 324735) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1507716	NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)	CRYAB (K54R +1 more)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +3 more	GUncertain significance
Select item 1506812	NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)	CRYAB (A101G +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1410499	NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)	CRYAB (R107C +1 more)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +4 more	GUncertain significance
Select item 1390439	NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)	CRYAB (F14S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +1 more	GUncertain significance
Select item 1044759	NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)	CRYAB (P13T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +5 more	GUncertain significance
Select item 1032782	NM_001289808.2(CRYAB):c.519del (p.Lys174fs)	CRYAB (K107fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 2	GUncertain significance
Select item 964348	NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)	CRYAB (R11G)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +4 more	GUncertain significance
Select item 879070	NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn)	CRYAB (S59N)	Single nucleotide variant (missense variant)	Fatal infantile hypertonic myofibrillar myopathy +2 more	GUncertain significance
Select item 877466	NM_001289808.2(CRYAB):c.*60G>A	CRYAB	Single nucleotide variant (3 prime UTR variant)	Fatal infantile hypertonic myofibrillar myopathy +2 more	GUncertain significance
Select item 810752	NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)	CRYAB (I161T +1 more)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +4 more	GUncertain significance
Select item 804222	NM_001289808.2(CRYAB):c.514del (p.Ala172fs)	CRYAB (A105fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 2	GPathogenic
Select item 657757	NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)	CRYAB (T40M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +3 more	GUncertain significance
Select item 657190	NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)	CRYAB (P39S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +4 more	GUncertain significance
Select item 643345	NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)	CRYAB (K25R +1 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1II +4 more	GUncertain significance
Select item 571646	NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)	CRYAB (P39A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +5 more	GUncertain significance
Select item 569482	NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)	CRYAB (R22H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	GUncertain significance
Select item 419895	NM_001289808.2(CRYAB):c.324+13dup	CRYAB	Duplication (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 393088	NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)	CRYAB (R123W +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	GUncertain significance
Select item 302432	NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)	CRYAB (E34D)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +4 more	GUncertain significance
Select item 302430	NM_001289808.2(CRYAB):c.*38G>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	Cataract 16 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 302429	NM_001289808.2(CRYAB):c.*39T>C	CRYAB	Single nucleotide variant (3 prime UTR variant)	Myofibrillar Myopathy, Dominant +2 more	GUncertain significance
Select item 201688	NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr)	CRYAB (H6Y)	Single nucleotide variant (missense variant)	Cataract 16 multiple types +4 more	GUncertain significance
Select item 178013	NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)	CRYAB (P39L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 44239	NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)	CRYAB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 44234	NM_001289808.2(CRYAB):c.324+4T>G	CRYAB	Single nucleotide variant (intron variant)	Myofibrillar Myopathy, Dominant +6 more	GBenign
Select item 44232	NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)	CRYAB (P51L)	Single nucleotide variant (missense variant)	CRYAB-related condition +8 more	GConflicting classifications of pathogenicity
Select item 41930	NM_001289808.2(CRYAB):c.325G>C (p.Asp109His)	CRYAB (D109H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2	GPathogenic
Select item 41929	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	CRYAB (R56W)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +1 more	GLikely pathogenic
Select item 41925	NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)	CRYAB (R157H +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2 +4 more	GUncertain significance
Select item 38963	NM_001289808.2(CRYAB):c.343del (p.Ser115fs)	CRYAB (S48fs +1 more)	Deletion (frameshift variant)	Myofibrillar myopathy 2 +4 more	GPathogenic/Likely pathogenic
Select item 29669	NM_001289808.2(CRYAB):c.60del (p.Ser21fs)	CRYAB (S21fs)	Deletion (frameshift variant)	Myofibrillar myopathy 2	GPathogenic
Select item 16956	NM_001289808.2(CRYAB):c.451C>T (p.Gln151Ter)	CRYAB (Q151* +1 more)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 2	GPathogenic
Select item 16955	NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs)	CRYAB (P88fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1II	GUncertain significance
Select item 16953	NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)	CRYAB (R120G +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 2	GPathogenic

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Items: 34