ClinVar for MedGen (Select 905452) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336658	NM_002582.4(PARN):c.178-28T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6	GLikely pathogenic
Select item 3243544	NC_000016.9:g.(?_14530574)_(14540958_?)dup	PARN	Duplication	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 3243543	NC_000016.9:g.(?_14711427)_(14724045_?)dup	PARN	Duplication	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 3243542	NC_000016.9:g.(?_14720953)_(14721203_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243541	NC_000016.9:g.(?_14693741)_(14700403_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243540	NC_000016.9:g.(?_14711427)_(14724045_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243539	NC_000016.9:g.(?_14704491)_(14704676_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3243537	NC_000016.9:g.(?_14530574)_(14724045_?)del	PARN	Deletion	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 3235940	NM_002582.4(PARN):c.918+5G>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6	GLikely pathogenic
Select item 3234892	NM_002582.4(PARN):c.1409_1417del (p.Asn470_Gln472del)	PARN	Deletion (inframe_deletion)	Dyskeratosis congenita, autosomal recessive 6	GUncertain significance
Select item 2954459	NM_002582.4(PARN):c.659+2dup	PARN	Duplication (splice donor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2953511	NM_002582.4(PARN):c.495C>T (p.Asn165=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2953466	NM_002582.4(PARN):c.520C>A (p.Pro174Thr)	PARN (P113T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2953114	NM_002582.4(PARN):c.697G>A (p.Glu233Lys)	PARN (E172K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2952166	NM_002582.4(PARN):c.146C>T (p.Thr49Ile)	PARN (T49I)	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2952143	NM_002582.4(PARN):c.1052A>C (p.Lys351Thr)	PARN (K290T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2952096	NM_002582.4(PARN):c.51G>C (p.Gln17His)	PARN (Q17H)	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2951512	NM_002582.4(PARN):c.1895T>G (p.Leu632Arg)	PARN (L571R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2951399	NM_002582.4(PARN):c.1079T>C (p.Val360Ala)	PARN (V314A +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2951043	NM_002582.4(PARN):c.245+10_245+34del	PARN	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2950817	NM_002582.4(PARN):c.1149C>G (p.Ala383=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2950275	NM_002582.4(PARN):c.784-14del	PARN	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2949395	NM_002582.4(PARN):c.1081+18G>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2949379	NM_002582.4(PARN):c.1864+5G>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2949378	NM_002582.4(PARN):c.1864+20G>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2949346	NM_002582.4(PARN):c.830T>G (p.Ile277Ser)	PARN (I231S +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2949321	NM_002582.4(PARN):c.994C>T (p.Gln332Ter)	PARN (Q286* +2 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 2949227	NM_002582.4(PARN):c.15_17del (p.Arg5del)	PARN (R5del)	Deletion (inframe_deletion +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2948483	NM_002582.4(PARN):c.1630A>C (p.Ile544Leu)	PARN (I498L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2948268	NM_002582.4(PARN):c.1670+5G>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2947408	NM_002582.4(PARN):c.1262+2T>C	PARN	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely pathogenic
Select item 2947274	NM_002582.4(PARN):c.1530T>G (p.Ala510=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2946360	NM_002582.4(PARN):c.98-5T>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2945971	NM_002582.4(PARN):c.20-20T>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2945941	NM_002582.4(PARN):c.1671-1G>T	PARN	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely pathogenic
Select item 2945786	NM_002582.4(PARN):c.628A>G (p.Arg210Gly)	PARN (R210G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2945756	NM_002582.4(PARN):c.1544G>T (p.Arg515Ile)	PARN (R454I +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2945348	NM_002582.4(PARN):c.246-4C>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2945113	NM_002582.4(PARN):c.784-1G>A	PARN	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely pathogenic
Select item 2945073	NM_002582.4(PARN):c.1865-6C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2944819	NM_002582.4(PARN):c.1177A>C (p.Met393Leu)	PARN (M393L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2944057	NM_002582.4(PARN):c.1840A>G (p.Met614Val)	PARN (M568V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2943851	NM_002582.4(PARN):c.1222G>C (p.Val408Leu)	PARN (V347L +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2943518	NM_002582.4(PARN):c.707A>G (p.Glu236Gly)	PARN (E236G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2943013	NM_002582.4(PARN):c.749A>G (p.Lys250Arg)	PARN (K189R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2942910	NM_002582.4(PARN):c.1193-14C>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2942891	NM_002582.4(PARN):c.1764C>T (p.Asp588=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2942751	NM_002582.4(PARN):c.1481-1G>A	PARN	Single nucleotide variant (splice acceptor variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely pathogenic
Select item 2941438	NM_002582.4(PARN):c.784-16A>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2941297	NM_002582.4(PARN):c.551T>G (p.Val184Gly)	PARN (V184G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2941295	NM_002582.4(PARN):c.308A>T (p.Asp103Val)	PARN (D103V +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2940373	NM_002582.4(PARN):c.1600G>A (p.Ala534Thr)	PARN (A488T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2939907	NM_002582.4(PARN):c.1410C>T (p.Asn470=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2939820	NM_002582.4(PARN):c.119T>C (p.Val40Ala)	PARN (V40A)	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2939200	NM_002582.4(PARN):c.1670+12C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2938914	NM_002582.4(PARN):c.866T>C (p.Met289Thr)	PARN (M289T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2938863	NM_002582.4(PARN):c.591C>T (p.Asn197=)	PARN	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2938632	NM_002582.4(PARN):c.336C>A (p.Ser112Arg)	PARN (S112R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2938046	NM_002582.4(PARN):c.19+20C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2938042	NM_002582.4(PARN):c.620+9T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2937906	NM_002582.4(PARN):c.702+20A>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2937841	NM_002582.4(PARN):c.904T>C (p.Cys302Arg)	PARN (C241R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2937090	NM_002582.4(PARN):c.962+12T>A	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2937004	NM_002582.4(PARN):c.1078G>T (p.Val360Phe)	PARN (V360F +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2936965	NM_002582.4(PARN):c.554+20C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2936762	NM_002582.4(PARN):c.748A>C (p.Lys250Gln)	PARN (K250Q +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2936663	NM_002582.4(PARN):c.328-17T>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2936444	NM_002582.4(PARN):c.1262+8A>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2936222	NM_002582.4(PARN):c.1645C>T (p.Gln549Ter)	PARN (Q503* +2 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GPathogenic
Select item 2936192	NM_002582.4(PARN):c.193T>A (p.Leu65Met)	PARN (L4M +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2936139	NM_002582.4(PARN):c.1055A>G (p.Glu352Gly)	PARN (E352G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2936123	NM_002582.4(PARN):c.587A>C (p.Glu196Ala)	PARN (E135A +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2936012	NM_002582.4(PARN):c.338T>C (p.Ile113Thr)	PARN (I52T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2935919	NM_002582.4(PARN):c.840+16T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2934919	NM_002582.4(PARN):c.703-18C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2934664	NM_002582.4(PARN):c.177+15T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2934402	NM_002582.4(PARN):c.1360A>G (p.Lys454Glu)	PARN (K408E +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2934331	NM_002582.4(PARN):c.1192+19T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2934147	NM_002582.4(PARN):c.1396A>T (p.Ser466Cys)	PARN (S466C +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2933997	NM_002582.4(PARN):c.20A>C (p.Asn7Thr)	PARN (N7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2933917	NM_002582.4(PARN):c.98-14T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2933807	NM_002582.4(PARN):c.20-16T>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2933752	NM_002582.4(PARN):c.671G>A (p.Gly224Asp)	PARN (G163D +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2933680	NM_002582.4(PARN):c.1405+13T>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2933401	NM_002582.4(PARN):c.783+11T>C	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2932866	NM_002582.4(PARN):c.388+20A>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2932833	NM_002582.4(PARN):c.1707G>T (p.Leu569Phe)	PARN (L523F +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932760	NM_002582.4(PARN):c.1838G>A (p.Arg613Lys)	PARN (R552K +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932730	NM_002582.4(PARN):c.702+18C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2932551	NM_002582.4(PARN):c.1109A>G (p.Asp370Gly)	PARN (D324G +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932534	NM_002582.4(PARN):c.1193-15T>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2932412	NM_002582.4(PARN):c.660-9T>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2932135	NM_002582.4(PARN):c.1244T>C (p.Ile415Thr)	PARN (I354T +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2932111	NM_002582.4(PARN):c.1779G>T (p.Gln593His)	PARN (Q593H +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2931900	NM_002582.4(PARN):c.1193-10del	PARN	Deletion (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GBenign
Select item 2931887	NM_002582.4(PARN):c.246-4C>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2931699	NM_002582.4(PARN):c.1081+3A>G	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2931614	NM_002582.4(PARN):c.918+9C>T	PARN	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GLikely benign
Select item 2931529	NM_002582.4(PARN):c.1915T>C (p.Trp639Arg)	PARN (W593R +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance
Select item 2931343	NM_002582.4(PARN):c.403A>G (p.Asn135Asp)	PARN (N74D +2 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal recessive 6 +1 more	GUncertain significance

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