ClinVar for MedGen (Select 1800880) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352696	NM_001034850.3(RETREG1):c.76_81dup (p.Ser26_Pro27dup)	LOC129993734, RETREG1 +1 more	Duplication (inframe_insertion)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 352688	NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile)	RETREG1 (T318I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 352684	NM_001034850.3(RETREG1):c.*55del	RETREG1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2	GUncertain significance
Select item 352683	NM_001034850.3(RETREG1):c.*71dup	RETREG1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GBenign
Select item 352680	NM_001034850.3(RETREG1):c.*455dup	RETREG1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2	GBenign
Select item 335286	NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn)	KIF1A (K25N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GUncertain significance
Select item 335254	NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +9 more	GConflicting classifications of pathogenicity
Select item 335248	NM_001244008.2(KIF1A):c.*249dup	KIF1A	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GUncertain significance
Select item 335230	NM_001244008.2(KIF1A):c.*1972del	KIF1A	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GUncertain significance
Select item 310834	NM_018979.4(WNK1):c.5370G>T (p.Gln1790His)	WNK1 (Q2042H +3 more)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 310831	NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)	WNK1 (S1536del +3 more)	Deletion (inframe_deletion)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GBenign/Likely benign
Select item 310752	NM_018979.4(WNK1):c.2652G>A (p.Ala884=)	WNK1	Single nucleotide variant (synonymous variant +1 more)	Hereditary sensory and autonomic neuropathy type 2 +4 more	GConflicting classifications of pathogenicity
Select item 310751	NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg)	WNK1 (T875R)	Single nucleotide variant (missense variant +1 more)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 310523	NM_018979.4(WNK1):c.-308G>T	WNK1	Single nucleotide variant (5 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 310521	NM_018979.4(WNK1):c.-351dup	WNK1	Duplication (5 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306741	NM_018979.4(WNK1):c.2615_2618dup	WNK1	Duplication (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 306737	NM_018979.4(WNK1):c.2576_2579dup	WNK1	Duplication (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306726	NM_018979.4(WNK1):c.2378_2381dup	WNK1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306715	NM_018979.4(WNK1):c.2192_2196dup	WNK1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306702	NM_018979.4(WNK1):c.*1904CAC[5]	WNK1	Microsatellite (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306701	NM_018979.4(WNK1):c.*1904dup	WNK1	Duplication (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306697	NM_018979.4(WNK1):c.*1722ATTA[1]	WNK1	Microsatellite (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GLikely benign
Select item 306692	NM_018979.4(WNK1):c.*1347del	WNK1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306687	NM_018979.4(WNK1):c.1132_1133del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306686	NM_018979.4(WNK1):c.*1060C>G	WNK1	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 306683	NM_018979.4(WNK1):c.772_776del	WNK1	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +1 more	GUncertain significance
Select item 306681	NM_018979.4(WNK1):c.*762CT[1]	WNK1	Microsatellite (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306679	NM_018979.4(WNK1):c.654_655del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GLikely benign
Select item 306676	NM_018979.4(WNK1):c.*628del	WNK1	Deletion (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 306675	NM_018979.4(WNK1):c.*628dup	WNK1	Duplication (3 prime UTR variant)	Pseudohypoaldosteronism type 2A +1 more	GUncertain significance
Select item 208649	NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	KIF1A (T1122M +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +9 more	GConflicting classifications of pathogenicity
Select item 203444	NM_001034850.3(RETREG1):c.826del (p.Ser276fs)	RETREG1 (S276fs +1 more)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GConflicting classifications of pathogenicity
Select item 195834	NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)	WNK1 (I2164L +3 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2A +5 more	GConflicting classifications of pathogenicity
Select item 21259	NM_001034850.3(RETREG1):c.873+2T>C	RETREG1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 21257	NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs)	LOC129993734, RETREG1 +1 more (P7fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 330	NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter)	RETREG1 (Q145*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 328	NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter)	RETREG1 (S309* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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Items: 37