Related gene-specific medical variations for Gene (Select 7431) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332063	NM_003380.5(VIM):c.229G>C (p.Val77Leu)	LOC130003452, VIM +1 more (V77L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332062	NM_003380.5(VIM):c.508C>T (p.Arg170Cys)	VIM, VIM-AS1 (R170C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3255373	NM_003380.5(VIM):c.1133G>A (p.Arg378His)	VIM (R378H)	Single nucleotide variant (missense variant)	Cataract 30	GBenign
Select item 3188562	NM_003380.5(VIM):c.276C>G (p.Ile92Met)	VIM, VIM-AS1 (I92M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188561	NM_003380.5(VIM):c.216C>G (p.Ser72Arg)	LOC130003452, VIM +1 more (S72R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188560	NM_003380.5(VIM):c.209T>C (p.Leu70Pro)	LOC130003452, VIM +1 more (L70P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2893287	NM_003380.5(VIM):c.563+15A>C	LOC130003453, VIM	Single nucleotide variant (intron variant)	Cataract 30	GLikely benign
Select item 2872983	NM_003380.5(VIM):c.451GAG[2] (p.Glu153del)	VIM, VIM-AS1 (E153del)	Microsatellite (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 2872982	NM_003380.5(VIM):c.82C>G (p.Arg28Gly)	VIM, VIM-AS1 (R28G)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 2629881	NM_003380.5(VIM):c.518T>C (p.Val173Ala)	VIM, VIM-AS1 (V173A)	Single nucleotide variant (non-coding transcript variant +1 more)	VIM-related disorder	GUncertain significance
Select item 2606641	NM_003380.5(VIM):c.55G>A (p.Gly19Ser)	VIM, VIM-AS1 (G19S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519548	NM_003380.5(VIM):c.229G>A (p.Val77Met)	LOC130003452, VIM +1 more (V77M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2336353	NM_003380.5(VIM):c.91G>C (p.Val31Leu)	VIM, VIM-AS1 (V31L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2322607	NM_003380.5(VIM):c.286T>C (p.Phe96Leu)	VIM, VIM-AS1 (F96L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2303431	NM_003380.5(VIM):c.89A>G (p.Tyr30Cys)	VIM, VIM-AS1 (Y30C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1699008	NM_003380.5(VIM):c.46G>A (p.Gly16Ser)	VIM, VIM-AS1 (G16S)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 1630177	NM_003380.5(VIM):c.423A>G (p.Gln141=)	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GLikely benign
Select item 1630176	NM_003380.5(VIM):c.384T>C (p.Asn128=)	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GLikely benign
Select item 1353044	NM_003380.5(VIM):c.134G>A (p.Arg45His)	VIM, VIM-AS1 (R45H)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 1316913	NM_003380.5(VIM):c.-147-69G>C	VIM, VIM-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316887	NM_003380.5(VIM):c.-147-284C>T	VIM, VIM-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289151	NM_003380.5(VIM):c.563+122C>G	LOC130003453, VIM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277994	NM_003380.5(VIM):c.-27C>T	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277763	NM_003380.5(VIM):c.-22G>C	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30 +1 more	GBenign
Select item 1246121	NM_003380.5(VIM):c.-147-165G>C	VIM, VIM-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 949490	NM_003380.5(VIM):c.468G>C (p.Glu156Asp)	VIM, VIM-AS1 (E156D)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 930366	NM_003380.5(VIM):c.1141C>T (p.Arg381Cys)	VIM (R381C)	Single nucleotide variant (missense variant)	Cataract 30	GUncertain significance
Select item 806442	NM_003380.5(VIM):c.23C>T (p.Ser8Leu)	VIM, VIM-AS1 (S8L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 779851	NM_003380.5(VIM):c.282C>T (p.Thr94=)	VIM, VIM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GBenign
Select item 772763	NM_003380.5(VIM):c.542A>C (p.Asp181Ala)	VIM, VIM-AS1 (D181A)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30 +1 more	GLikely benign
Select item 703473	NM_003380.5(VIM):c.99G>T (p.Thr33=)	VIM-AS1, VIM	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GBenign
Select item 541104	NM_003380.5(VIM):c.167C>A (p.Ser56Tyr)	LOC130003452, VIM +1 more (S56Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GUncertain significance
Select item 217338	NM_003380.5(VIM):c.15del (p.Val6fs)	VIM-AS1, VIM (V6fs)	Deletion (non-coding transcript variant +1 more)	Cataract 30 +1 more	GPathogenic/Likely pathogenic
Select item 12199	NM_003380.5(VIM):c.451G>A (p.Glu151Lys)	VIM, VIM-AS1 (E151K)	Single nucleotide variant (non-coding transcript variant +1 more)	Cataract 30	GPathogenic

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Items: 34