ClinVar for MedGen (Select 419344) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368984	NM_024809.5(TCTN2):c.*67C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 325905	NM_006907.4(PYCR1):c.598C>T (p.Arg200Cys)	PYCR1 (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, recessive	GUncertain significance
Select item 325899	NM_006907.4(PYCR1):c.195_196del	PYCR1	Deletion (3 prime UTR variant +1 more)	Cutis laxa, recessive	GUncertain significance
Select item 325892	NM_006907.4(PYCR1):c.*746C>T	PYCR1	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 307634	NM_012463.4(ATP6V0A2):c.2984_2986del	ATP6V0A2	Deletion (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 307627	NM_012463.4(ATP6V0A2):c.2344_2346dup	ATP6V0A2	Duplication (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 307625	NM_012463.4(ATP6V0A2):c.2186_2189del	ATP6V0A2	Deletion (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 307623	NM_012463.4(ATP6V0A2):c.2128_2129del	ATP6V0A2	Deletion (3 prime UTR variant)	Cutis laxa, recessive	GLikely benign
Select item 307600	NM_012463.4(ATP6V0A2):c.*60dup	ATP6V0A2	Duplication (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 307590	NM_012463.4(ATP6V0A2):c.1724+20del	ATP6V0A2	Deletion (intron variant)	Cutis laxa, recessive +2 more	GBenign/Likely benign
Select item 307574	NM_012463.4(ATP6V0A2):c.-170C>A	ATP6V0A2, LOC130009117	Single nucleotide variant (5 prime UTR variant)	Cutis laxa, recessive +1 more	GUncertain significance
Select item 307573	NM_012463.3(ATP6V0A2):c.-222C>G	TCTN2, ATP6V0A2 +1 more	Single nucleotide variant	Familial aplasia of the vermis +3 more	GBenign/Likely benign
Select item 307572	NM_012463.3(ATP6V0A2):c.-227A>G	ATP6V0A2, LOC130009117	Single nucleotide variant	Cutis laxa, recessive +1 more	GLikely benign
Select item 307571	NM_012463.3(ATP6V0A2):c.-243C>A	ATP6V0A2, LOC130009117	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 307569	NM_024809.5(TCTN2):c.*468C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +3 more	GBenign
Select item 307568	NM_024809.5(TCTN2):c.*412T>C	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +3 more	GBenign/Likely benign
Select item 307567	NM_024809.5(TCTN2):c.330_331insACTC	ATP6V0A2, TCTN2	Insertion (3 prime UTR variant)	Cutis laxa, recessive +3 more	GBenign
Select item 307564	NM_024809.5(TCTN2):c.*155G>A	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 24 +3 more	GBenign
Select item 307563	NM_024809.5(TCTN2):c.*87C>T	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +3 more	GBenign/Likely benign
Select item 307562	NM_024809.5(TCTN2):c.*45G>A	ATP6V0A2, TCTN2	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, recessive +5 more	GConflicting classifications of pathogenicity
Select item 305391	NM_016938.4(EFEMP2):c.-229G>C	EFEMP2	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 305390	NM_016938.4(EFEMP2):c.-181G>A	EFEMP2	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 305389	NM_016938.4(EFEMP2):c.-143_-140GGCG[4]	EFEMP2	Microsatellite	Cutis laxa, recessive	GUncertain significance
Select item 305374	NM_016938.5(EFEMP2):c.*165dup	EFEMP2, MUS81	Duplication (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 301786	NM_002860.3(ALDH18A1):c.-223C>G	ALDH18A1	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 301785	NM_002860.3(ALDH18A1):c.-189T>C	ALDH18A1	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 301784	NM_002860.3(ALDH18A1):c.-166T>C	ALDH18A1	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 301783	NM_002860.3(ALDH18A1):c.-162A>G	ALDH18A1	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 301779	NM_002860.4(ALDH18A1):c.-69CG[4]	ALDH18A1	Microsatellite (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 301776	NM_002860.4(ALDH18A1):c.453+13del	ALDH18A1	Deletion (intron variant)	Cutis laxa, recessive	GUncertain significance
Select item 301744	NM_002860.4(ALDH18A1):c.*803del	ALDH18A1	Deletion (3 prime UTR variant)	Cutis laxa, recessive	GUncertain significance
Select item 301743	NM_002860.3(ALDH18A1):c.*829C>T	ALDH18A1	Single nucleotide variant	Cutis laxa, recessive	GUncertain significance
Select item 194862	NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	ATP6V0A2	Single nucleotide variant (synonymous variant)	ALG9 congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 126286	NM_024809.5(TCTN2):c.2041T>C (p.Leu681=)	ATP6V0A2, TCTN2	Single nucleotide variant (synonymous variant)	Cutis laxa, recessive +6 more	GBenign/Likely benign
Select item 95515	NM_012463.4(ATP6V0A2):c.-14C>T	ATP6V0A2, LOC130009117 +1 more	Single nucleotide variant (5 prime UTR variant)	Familial aplasia of the vermis +5 more	GBenign/Likely benign

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Items: 35