729238[geneid] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 203407	GRCh38/hg38 10q22.3(chr10:79491821-79798351)x3	EIF5AL1, LINC02679 +5 more	Copy number gain	See cases	GBenign
Select item 1258839	NM_001098668.4(SFTPA2):c.*152C>T	SFTPA2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2324613	NM_001098668.4(SFTPA2):c.733A>G (p.Ile245Val)	SFTPA2 (I245V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3355801	NM_001098668.4(SFTPA2):c.727C>T (p.Leu243=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 3027274	NM_001098668.4(SFTPA2):c.719_721del (p.Tyr240del)	SFTPA2 (Y240del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1325405	NM_001098668.4(SFTPA2):c.697T>A (p.Trp233Arg)	SFTPA2 (W233R +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GPathogenic
Select item 13199	NM_001098668.4(SFTPA2):c.692G>T (p.Gly231Val)	SFTPA2 (G231V +1 more)	Single nucleotide variant (missense variant)	Pulmonary fibrosis +1 more	GPathogenic/Likely risk allele
Select item 1691338	NM_001098668.4(SFTPA2):c.680T>G (p.Met227Arg)	SFTPA2 (M227R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704398	NM_001098668.4(SFTPA2):c.676G>A (p.Glu226Lys)	SFTPA2 (E226K +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 227071	NM_001098668.4(SFTPA2):c.667C>A (p.Gln223Lys)	SFTPA2 (Q223K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 3047064	NM_001098668.4(SFTPA2):c.657G>A (p.Arg219=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GBenign
Select item 1705915	NM_001098668.4(SFTPA2):c.656G>T (p.Arg219Leu)	SFTPA2 (R219L +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 3033731	NM_001098668.4(SFTPA2):c.655C>T (p.Arg219Trp)	SFTPA2 (R219W +1 more)	Single nucleotide variant (missense variant)	SFTPA2-related disorder	GLikely benign
Select item 3160957	NM_001098668.4(SFTPA2):c.650C>T (p.Ala217Val)	SFTPA2 (A227V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227070	NM_001098668.4(SFTPA2):c.648T>C (p.Pro216=)	SFTPA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2640641	NM_001098668.4(SFTPA2):c.606T>C (p.Asp202=)	SFTPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3317884	NM_001098668.4(SFTPA2):c.599A>T (p.Tyr200Phe)	SFTPA2 (Y200F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160956	NM_001098668.4(SFTPA2):c.595C>T (p.Arg199Cys)	SFTPA2 (R209C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 13200	NM_001098668.4(SFTPA2):c.593T>C (p.Phe198Ser)	SFTPA2 (F198S +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GPathogenic
Select item 1705914	NM_001098668.4(SFTPA2):c.557A>G (p.Tyr186Cys)	SFTPA2 (Y186C +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GLikely pathogenic
Select item 985062	NM_001098668.4(SFTPA2):c.532G>A (p.Val178Met)	SFTPA2 (V178M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3051988	NM_001098668.4(SFTPA2):c.531C>T (p.Phe177=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 1705913	NM_001098668.4(SFTPA2):c.530T>A (p.Phe177Tyr)	SFTPA2 (F177Y +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GUncertain significance
Select item 3160955	NM_001098668.4(SFTPA2):c.516G>C (p.Glu172Asp)	SFTPA2 (E172D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1322020	NM_001098668.4(SFTPA2):c.512A>T (p.Asn171Ile)	SFTPA2 (N171I +1 more)	Single nucleotide variant (missense variant)	Interstitial lung disease 2	GPathogenic
Select item 2486879	NM_001098668.4(SFTPA2):c.488C>T (p.Ala163Val)	SFTPA2 (A163V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705909	NM_001098668.4(SFTPA2):c.460G>C (p.Ala154Pro)	SFTPA2 (A154P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227069	NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=)	SFTPA2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2390476	NM_001098668.4(SFTPA2):c.401T>C (p.Val134Ala)	SFTPA2 (V134A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160953	NM_001098668.4(SFTPA2):c.371C>T (p.Ala124Val)	SFTPA2 (A134V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 229248	NM_001098668.4(SFTPA2):c.371-13C>G	SFTPA2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1179817	NM_001098668.4(SFTPA2):c.371-19T>C	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276701	NM_001098668.4(SFTPA2):c.370+67C>G	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047233	NM_001098668.4(SFTPA2):c.370+10C>A	SFTPA2	Single nucleotide variant (intron variant)	SFTPA2-related disorder	GLikely benign
Select item 2550301	NM_001098668.4(SFTPA2):c.365G>A (p.Arg122Lys)	SFTPA2 (R122K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776521	NM_001098668.4(SFTPA2):c.342C>T (p.Phe114=)	SFTPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786167	NM_001098668.4(SFTPA2):c.314A>C (p.Glu105Ala)	SFTPA2 (E105A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3037096	NM_001098668.4(SFTPA2):c.303T>C (p.Ala101=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 1272507	NM_001098668.4(SFTPA2):c.292+97T>A	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233654	NM_001098668.4(SFTPA2):c.292+64A>G	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222989	NM_001098668.4(SFTPA2):c.292+47dup	SFTPA2	Duplication (intron variant)	not provided	GBenign
Select item 1332949	NM_001098668.4(SFTPA2):c.292+21G>A	SFTPA2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 227068	NM_001098668.4(SFTPA2):c.292+11C>T	SFTPA2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2527094	NM_001098668.4(SFTPA2):c.286C>T (p.Pro96Ser)	SFTPA2 (P106S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 666638	NM_001098668.4(SFTPA2):c.282A>G (p.Arg94=)	SFTPA2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 227067	NM_001098668.4(SFTPA2):c.271G>C (p.Ala91Pro)	SFTPA2 (A91P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1297497	NM_001098668.4(SFTPA2):c.257G>A (p.Gly86Glu)	SFTPA2 (G86E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 780883	NM_001098668.4(SFTPA2):c.254G>A (p.Arg85His)	SFTPA2 (R95H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 619212	NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys)	SFTPA2 (R85C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3058342	NM_001098668.4(SFTPA2):c.241G>A (p.Val81Ile)	SFTPA2 (V81I +1 more)	Single nucleotide variant (missense variant)	SFTPA2-related disorder	GLikely benign
Select item 3160952	NM_001098668.4(SFTPA2):c.239G>T (p.Gly80Val)	SFTPA2 (G80V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052664	NM_001098668.4(SFTPA2):c.217A>G (p.Asn73Asp)	SFTPA2 (N73D +1 more)	Single nucleotide variant (missense variant)	SFTPA2-related disorder	GLikely benign
Select item 3052671	NM_001098668.4(SFTPA2):c.213G>A (p.Gly71=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 2559329	NM_001098668.4(SFTPA2):c.209C>A (p.Pro70His)	SFTPA2 (P70H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719470	NM_001098668.4(SFTPA2):c.198A>G (p.Thr66=)	SFTPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719471	NM_001098668.4(SFTPA2):c.197C>T (p.Thr66Ile)	SFTPA2 (T66I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3317885	NM_001098668.4(SFTPA2):c.193G>A (p.Glu65Lys)	SFTPA2 (E65K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 719472	NM_001098668.4(SFTPA2):c.186G>A (p.Pro62=)	SFTPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1221874	NM_001098668.4(SFTPA2):c.173-59C>T	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286990	NM_001098668.4(SFTPA2):c.172+138G>C	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044729	NM_001098668.4(SFTPA2):c.167C>T (p.Pro56Leu)	SFTPA2 (P56L +1 more)	Single nucleotide variant (missense variant)	SFTPA2-related disorder	GUncertain significance
Select item 3045206	NM_001098668.4(SFTPA2):c.165C>A (p.Gly55=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 227065	NM_001098668.4(SFTPA2):c.148G>C (p.Val50Leu)	SFTPA2 (V50L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3036033	NM_001098668.4(SFTPA2):c.144T>C (p.Asp48=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 2380961	NM_001098668.4(SFTPA2):c.136G>A (p.Gly46Arg)	SFTPA2 (G46R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048975	NM_001098668.4(SFTPA2):c.135C>T (p.Asp45=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 2297221	NM_001098668.4(SFTPA2):c.118G>A (p.Gly40Ser)	SFTPA2 (G50S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3041127	NM_001098668.4(SFTPA2):c.99C>T (p.Pro33=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 3036922	NM_001098668.4(SFTPA2):c.72C>T (p.Asp24=)	SFTPA2	Single nucleotide variant (synonymous variant)	SFTPA2-related disorder	GLikely benign
Select item 3041540	NM_001098668.4(SFTPA2):c.56C>T (p.Ala19Val)	SFTPA2 (A19V +1 more)	Single nucleotide variant (missense variant)	SFTPA2-related disorder	GBenign
Select item 3160954	NM_001098668.4(SFTPA2):c.44C>A (p.Ala15Asp)	SFTPA2 (A15D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 227066	NM_001098668.4(SFTPA2):c.26C>A (p.Thr9Asn)	SFTPA2 (T9N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3058593	NM_001098668.4(SFTPA2):c.-16G>A	SFTPA2	Single nucleotide variant (5 prime UTR variant +1 more)	SFTPA2-related disorder	GLikely benign
Select item 3060374	NM_001098668.4(SFTPA2):c.-23-5G>T	SFTPA2	Single nucleotide variant (intron variant +1 more)	SFTPA2-related disorder	GLikely benign
Select item 1247340	NM_001098668.4(SFTPA2):c.-23-5G>A	SFTPA2	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 1278406	NM_001098668.4(SFTPA2):c.-23-161G>A	SFTPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052189	NM_001098668.4(SFTPA2):c.-23-162G>C	SFTPA2	Single nucleotide variant (intron variant)	SFTPA2-related disorder	GLikely benign
Select item 3033840	NM_001098668.4(SFTPA2):c.-23-177C>A	SFTPA2	Single nucleotide variant (5 prime UTR variant +1 more)	SFTPA2-related disorder	GLikely benign
Select item 1270227	NM_001098668.4(SFTPA2):c.-23-196G>A	SFTPA2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1262778	NM_001098668.4(SFTPA2):c.-23-221T>C	SFTPA2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2685382	GRCh37/hg19 10q22.3(chr10:81289036-81872800)x1	NUTM2B, SFTPA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527595	GRCh37/hg19 10q22.3(chr10:81297993-81422572)	SFTPA1, SFTPA2	Copy number loss	not specified	GUncertain significance
Select item 1340854	GRCh37/hg19 10q22.3(chr10:81013486-81409192)x3	EIF5AL1, PPIF +4 more	Copy number gain	not provided	GUncertain significance
Select item 979273	GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3	NUTM2B, ANXA11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 832057	NC_000010.10:g.(?_80961390)_(81319734_?)del	EIF5AL1, PPIF +3 more	Deletion	not provided	GPathogenic
Select item 687226	GRCh37/hg19 10q22.3(chr10:81297993-81422572)x1	SFTPA1, SFTPA2	Copy number loss	not provided	GUncertain significance
Select item 686479	GRCh37/hg19 10q22.3(chr10:81297994-81422268)x1	SFTPA1, SFTPA2	Copy number loss	not provided	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 97