ClinVar for MedGen (Select 10493) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 710944	NM_020812.4(DOCK6):c.133G>A (p.Val45Ile)	DOCK6 (V45I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 353185	NM_003900.5(SQSTM1):c.*1299GA[1]	MRNIP, SQSTM1	Microsatellite (3 prime UTR variant +1 more)	Bone Paget disease	GUncertain significance
Select item 353177	NM_003900.5(SQSTM1):c.725_728dup	MRNIP, SQSTM1	Duplication (3 prime UTR variant)	Bone Paget disease +1 more	GUncertain significance
Select item 353169	NM_003900.5(SQSTM1):c.*175TG[8]	SQSTM1	Microsatellite (3 prime UTR variant)	Bone Paget disease +1 more	GBenign/Likely benign
Select item 353151	NM_003900.4(SQSTM1):c.-35G>C	SQSTM1	Single nucleotide variant (intron variant)	Bone Paget disease +1 more	GLikely benign
Select item 327760	NM_003839.4(TNFRSF11A):c.*1251dup	TNFRSF11A	Duplication (3 prime UTR variant)	Osteopetrosis +1 more	GLikely benign
Select item 327758	NM_003839.4(TNFRSF11A):c.*1057A>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	Osteopetrosis +1 more	GUncertain significance
Select item 327752	NM_003839.4(TNFRSF11A):c.*668G>T	TNFRSF11A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 327750	NM_003839.4(TNFRSF11A):c.634_635dup	TNFRSF11A	Duplication (3 prime UTR variant)	Bone Paget disease +1 more	GLikely benign
Select item 327749	NM_003839.4(TNFRSF11A):c.626_627insCC	TNFRSF11A	Insertion (3 prime UTR variant)	Osteopetrosis +1 more	GUncertain significance
Select item 327745	NM_003839.4(TNFRSF11A):c.*379del	TNFRSF11A	Deletion (3 prime UTR variant)	Osteopetrosis +1 more	GUncertain significance
Select item 327744	NM_003839.4(TNFRSF11A):c.*321del	TNFRSF11A	Deletion (3 prime UTR variant)	Osteopetrosis +1 more	GUncertain significance
Select item 327743	NM_003839.4(TNFRSF11A):c.*320del	TNFRSF11A	Deletion (3 prime UTR variant)	Osteopetrosis +1 more	GLikely benign
Select item 327742	NM_003839.4(TNFRSF11A):c.*320dup	TNFRSF11A	Duplication (3 prime UTR variant)	Osteopetrosis +2 more	GUncertain significance
Select item 327737	NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr)	TNFRSF11A (A507T +1 more)	Single nucleotide variant (missense variant +1 more)	Bone Paget disease +2 more	GBenign/Likely benign
Select item 327729	NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr)	TNFRSF11A (H141Y)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 327723	NM_003839.3(TNFRSF11A):c.-49G>A	LOC130062628, TNFRSF11A	Single nucleotide variant	Bone Paget disease +1 more	GUncertain significance
Select item 287370	NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)	TNFRSF11A (K240E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 259183	NM_003839.4(TNFRSF11A):c.933A>G (p.Thr311=)	TNFRSF11A	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive osteopetrosis 7 +5 more	GBenign/Likely benign
Select item 259182	NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val)	TNFRSF11A (A192V +1 more)	Single nucleotide variant (missense variant)	Osteopetrosis +4 more	GBenign/Likely benign
Select item 259177	NM_003839.4(TNFRSF11A):c.-39G>A	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 193259	NM_003839.4(TNFRSF11A):c.-9T>C	LOC130062628, TNFRSF11A	Single nucleotide variant (5 prime UTR variant)	Osteopetrosis +3 more	GBenign/Likely benign
Select item 193258	NM_003839.4(TNFRSF11A):c.75+5G>A	TNFRSF11A	Single nucleotide variant (intron variant)	Osteopetrosis +3 more	GBenign/Likely benign

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Items: 23