Related gene-specific medical variations for Gene (Select 5265) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690996	NM_000295.5(SERPINA1):c.568C>T (p.Gln190Ter)	SERPINA1 (Q190*)	Single nucleotide variant (nonsense)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 2678661	NM_000295.5(SERPINA1):c.557del (p.Glu186fs)	SERPINA1 (E186fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678660	NM_000295.5(SERPINA1):c.1179del (p.Phe394fs)	SERPINA1 (F394fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678659	NM_000295.5(SERPINA1):c.216del (p.Asn73fs)	SERPINA1 (N73fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678657	NM_000295.5(SERPINA1):c.155C>T (p.Pro52Leu)	SERPINA1 (P52L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678656	NM_000295.5(SERPINA1):c.351_352del (p.His117fs)	SERPINA1 (H117fs)	Deletion (frameshift variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2678655	NM_000295.5(SERPINA1):c.647-2A>C	SERPINA1	Single nucleotide variant (splice acceptor variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 2644478	NM_006220.3(SERPINA2):c.31C>T (p.Leu11=)	SERPINA1, SERPINA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 692117	NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)	SERPINA1 (D157N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 692116	NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro)	SERPINA1 (T320P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely pathogenic
Select item 692115	NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe)	SERPINA1 (S260F)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626312	NM_000295.5(SERPINA1):c.35T>C (p.Leu12Pro)	SERPINA1 (L12P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 626308	NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp)	SERPINA1 (E99D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626307	NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys)	SERPINA1 (E378K)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626306	NM_000295.5(SERPINA1):c.833T>C (p.Leu278Pro)	SERPINA1 (L278P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 626303	NM_000295.5(SERPINA1):c.585_586delinsA (p.Asp195fs)	SERPINA1 (D195fs)	Indel (frameshift variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 626302	NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys)	SERPINA1 (W218C)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626301	NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys)	SERPINA1 (N338K)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626300	NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg)	SERPINA1 (Q254R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626299	NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp)	SERPINA1 (A374D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 626298	NM_000295.5(SERPINA1):c.244G>C (p.Ala82Pro)	SERPINA1 (A82P)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 440739	NM_000295.5(SERPINA1):c.602A>G (p.Asp201Gly)	SERPINA1 (D201G)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 440737	NM_000295.5(SERPINA1):c.190C>A (p.Gln64Lys)	SERPINA1 (Q64K)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 440498	NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val)	SERPINA1 (G119V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440497	NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu)	SERPINA1 (Q180E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440496	NM_000295.5(SERPINA1):c.647del	SERPINA1	Deletion	Alpha-1-antitrypsin deficiency	GPathogenic/Likely pathogenic
Select item 440495	NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu)	SERPINA1 (F222L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440494	NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser)	SERPINA1 (P243S)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440493	NM_000295.5(SERPINA1):c.878A>G (p.His293Arg)	SERPINA1 (H293R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440492	NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn)	SERPINA1 (K298N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440491	NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln)	SERPINA1 (E303Q)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440490	NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu)	SERPINA1 (K334E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440489	NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala)	SERPINA1 (S343A)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440488	NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp)	SERPINA1 (A379D)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 440487	NM_000295.5(SERPINA1):c.1226T>C (p.Met409Thr)	SERPINA1 (M409T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 219372	NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg)	SERPINA1 (Q236R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219371	NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile)	SERPINA1 (T403I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219370	NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr)	SERPINA1 (D365Y)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219369	NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg)	SERPINA1 (K355R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219368	NM_000295.5(SERPINA1):c.879C>G (p.His293Gln)	SERPINA1 (H293Q)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219367	NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr)	SERPINA1 (K246T)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219366	NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile)	SERPINA1 (M245I)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219365	NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His)	SERPINA1 (Y211H)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219363	NM_000295.5(SERPINA1):c.199C>A (p.His67Asn)	SERPINA1 (H67N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219362	NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn)	SERPINA1 (K34N)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219361	NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val)	SERPINA1 (D30V)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219359	NM_000295.5(SERPINA1):c.236T>A (p.Val79Glu)	SERPINA1 (V79E)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GUncertain significance
Select item 219358	NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu)	SERPINA1 (R63L)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 219356	NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg)	SERPINA1 (S60R)	Single nucleotide variant (missense variant)	Alpha-1-antitrypsin deficiency	GLikely benign
Select item 217816	QOgranite falls allele	SERPINA1	Variation	Alpha-1-antitrypsin deficiency	GPathogenic
Select item 17979	PI NULL(PROCIDA)	SERPINA1	Deletion	PI NULL(PROCIDA) +1 more	GPathogenic; other
Select item 17973	PI NULL(HONG KONG 2)	SERPINA1	Variation	PI NULL(HONG KONG 2)	Gother
Select item 17960	PI B(ALHAMBRA)	SERPINA1	Variation	PI B(ALHAMBRA)	Gother

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Links from Gene

Items: 53