ClinVar for MedGen (Select 1713432) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500990	NM_002340.6(LSS):c.1016C>T (p.Ser339Leu)	LSS (S259L +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 2500989	NM_002340.6(LSS):c.1522G>C (p.Gly508Arg)	LSS (G428R +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 1707554	NC_000021.9:g.46228667_46229005del	LOC112694753, LOC130066869 +1 more	Deletion	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 1707553	NM_002340.6(LSS):c.1955C>T (p.Thr652Ile)	LSS (T572I +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 1701719	NM_002340.6(LSS):c.22C>G (p.Arg8Gly)	LSS (R8G)	Single nucleotide variant (missense variant +1 more)	Alopecia-intellectual disability syndrome 4	GUncertain significance
Select item 1701718	NM_002340.6(LSS):c.1194G>A (p.Glu398=)	LSS	Single nucleotide variant (synonymous variant)	Alopecia-intellectual disability syndrome 4	GUncertain significance
Select item 1287852	NM_002340.6(LSS):c.181-16_181-15del	LSS	Deletion (intron variant)	Alopecia-intellectual disability syndrome 4 +2 more	GBenign
Select item 1256057	NM_002340.6(LSS):c.647G>A (p.Trp216Ter)	LSS (W136* +2 more)	Single nucleotide variant (nonsense)	Hypotrichosis 14 +2 more	GPathogenic
Select item 1256056	NM_002340.6(LSS):c.857A>G (p.Tyr286Cys)	LSS (Y206C +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4 +1 more	GLikely pathogenic
Select item 1201735	NM_002340.6(LSS):c.181-27dup	LSS	Duplication (intron variant)	Cataract 44 +3 more	GBenign/Likely benign
Select item 1098866	NM_002340.6(LSS):c.429-1G>A	LSS	Single nucleotide variant (splice acceptor variant)	Alopecia-intellectual disability syndrome 4	GLikely pathogenic
Select item 982382	NM_016284.5(CNOT1):c.3681_3687del (p.Lys1227fs)	CNOT1 (K1222fs +1 more)	Deletion (frameshift variant +1 more)	Alopecia-intellectual disability syndrome 4	GLikely pathogenic
Select item 982379	NM_002340.6(LSS):c.1109+2T>C	LSS	Single nucleotide variant (splice donor variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 834068	NM_002340.6(LSS):c.35G>A (p.Gly12Asp)	LSS (G12D)	Single nucleotide variant (missense variant +1 more)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 834067	NM_002340.6(LSS):c.1194+5G>A	LSS	Single nucleotide variant (intron variant)	LSS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 834066	NM_002340.6(LSS):c.779G>C (p.Arg260Pro)	LSS (R260P +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 834065	NM_002340.6(LSS):c.2114C>A (p.Thr705Lys)	LSS (T705K +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 834064	NM_002340.6(LSS):c.1547A>G (p.Asn516Ser)	LSS (N516S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783885	NM_002340.6(LSS):c.752C>T (p.Ala251Val)	LSS (A240V +2 more)	Single nucleotide variant (missense variant)	Cataract 44 +3 more	GBenign/Likely benign
Select item 677175	NM_002340.6(LSS):c.1924T>G (p.Leu642Val)	LSS (L631V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 677174	NM_002340.6(LSS):c.864G>C (p.Pro288=)	LSS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 677173	NM_002340.6(LSS):c.784-6C>T	LSS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 677172	NM_002340.6(LSS):c.551-6G>C	LSS	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided +2 more	GBenign
Select item 599323	NM_002340.6(LSS):c.625A>T (p.Asn209Tyr)	LSS (N209Y +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 599322	NM_002340.6(LSS):c.423G>A (p.Trp141Ter)	LSS (W141* +1 more)	Single nucleotide variant (nonsense +1 more)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 599321	NM_002340.6(LSS):c.304C>G (p.Leu102Val)	LSS (L102V +1 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic

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Items: 26