SFTPD[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 83

	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 1679573	Single allele	LOC130004183, LOC130004184 +19 more	Deletion	not provided	GUncertain significance
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 148665	GRCh38/hg38 10q22.3(chr10:79881238-80198984)x1	ANXA11, LOC126860977 +8 more	Copy number loss	See cases	GUncertain significance
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 147366	GRCh38/hg38 10q22.3(chr10:79882162-80202422)x1	ANXA11, LOC126860977 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57378	GRCh38/hg38 10q22.3-23.1(chr10:79882162-80327290)x1	ANXA11, LINC00857 +20 more	Copy number loss	See cases	GUncertain significance
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 2629926	NM_003019.5(SFTPD):c.1082dup (p.Asn361fs)	SFTPD (N361fs)	Duplication (frameshift variant)	SFTPD-related disorder	GUncertain significance
Select item 165213	NM_003019.5(SFTPD):c.925G>A (p.Glu309Lys)	SFTPD (E309K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 178808	NM_003019.5(SFTPD):c.918T>C (p.Ala306=)	SFTPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2457661	NM_003019.5(SFTPD):c.895G>T (p.Ala299Ser)	SFTPD (A299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504740	NM_003019.5(SFTPD):c.883G>A (p.Ala295Thr)	SFTPD (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165214	NM_003019.5(SFTPD):c.868T>A (p.Ser290Thr)	SFTPD (S290T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3049291	NM_003019.5(SFTPD):c.825G>A (p.Thr275=)	SFTPD	Single nucleotide variant (synonymous variant)	SFTPD-related disorder	GBenign
Select item 403430	NM_003019.5(SFTPD):c.752-19_752-16del	SFTPD	Deletion (intron variant)	not specified	GBenign
Select item 1239741	NM_003019.5(SFTPD):c.752-113C>T	SFTPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2621619	NM_003019.5(SFTPD):c.743A>G (p.Tyr248Cys)	SFTPD (Y248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293187	NM_003019.5(SFTPD):c.668A>G (p.Asp223Gly)	SFTPD (D223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270678	NM_003019.5(SFTPD):c.556G>T (p.Ala186Ser)	SFTPD (A186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1263839	NM_003019.5(SFTPD):c.550+187A>G	SFTPD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 165215	NM_003019.5(SFTPD):c.538A>G (p.Thr180Ala)	SFTPD (T180A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2481054	NM_003019.5(SFTPD):c.530C>G (p.Pro177Arg)	SFTPD (P177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252927	NM_003019.5(SFTPD):c.485C>T (p.Ala162Val)	SFTPD (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053715	NM_003019.5(SFTPD):c.484G>A (p.Ala162Thr)	SFTPD (A162T)	Single nucleotide variant (missense variant)	SFTPD-related disorder	GUncertain significance
Select item 2485675	NM_003019.5(SFTPD):c.400A>G (p.Lys134Glu)	SFTPD (K134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165216	NM_003019.5(SFTPD):c.367C>G (p.Leu123Val)	SFTPD (L123V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2276956	NM_003019.5(SFTPD):c.334G>A (p.Gly112Ser)	SFTPD (G112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165217	NM_003019.5(SFTPD):c.297G>A (p.Lys99=)	SFTPD	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2325809	NM_003019.5(SFTPD):c.204G>T (p.Leu68Phe)	SFTPD (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227074	NM_003019.5(SFTPD):c.199+9G>A	SFTPD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2523902	NM_003019.5(SFTPD):c.179G>A (p.Arg60Gln)	SFTPD (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311346	NM_003019.5(SFTPD):c.173G>A (p.Gly58Asp)	SFTPD (G58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246509	NM_003019.5(SFTPD):c.172G>A (p.Gly58Ser)	SFTPD (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504741	NM_003019.5(SFTPD):c.158G>A (p.Arg53Gln)	SFTPD (R53Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 165218	NM_003019.5(SFTPD):c.135T>C (p.Ser45=)	SFTPD	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 218619	NM_003019.5(SFTPD):c.110T>A (p.Leu37Gln)	SFTPD (L37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 165219	NM_003019.5(SFTPD):c.92T>C (p.Met31Thr)	SFTPD (M31T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2456526	NM_003019.5(SFTPD):c.80C>T (p.Ser27Phe)	SFTPD (S27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243676	NM_003019.5(SFTPD):c.34C>A (p.Leu12Ile)	SFTPD (L12I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244819	NC_000010.10:g.(?_81697608)_(82049179_?)dup	ANXA11, MAT1A +3 more	Duplication	Hepatic methionine adenosyltransferase deficiency	GUncertain significance
Select item 3244818	NC_000010.10:g.(?_81697608)_(82049179_?)del	ANXA11, MAT1A +3 more	Deletion	Hepatic methionine adenosyltransferase deficiency	GPathogenic
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 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	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 1808987	GRCh37/hg19 10q22.3(chr10:81603170-81984775)x1	ANXA11, PLAC9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1340608	GRCh37/hg19 10q22.3(chr10:81446907-81844436)x1	NUTM2B, SFTPD +1 more	Copy number loss	not provided	GLikely benign
Select item 1340588	GRCh37/hg19 10q22.3(chr10:81630469-81979676)x3	ANXA11, PLAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340433	GRCh37/hg19 10q22.3(chr10:81597767-81971690)x3	ANXA11, PLAC9 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340005	GRCh37/hg19 10q22.3-23.1(chr10:81622295-83932730)x1	ANXA11, DYDC1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 980931	GRCh37/hg19 10q22.3(chr10:81457752-81990746)x1	ANXA11, NUTM2B +3 more	Copy number loss	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
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 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 635864	Single allele	ANXA11, PLAC9 +2 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
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 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
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 563741	GRCh37/hg19 10q22.3(chr10:81597766-81979552)x3	PLAC9, TMEM254 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563740	GRCh37/hg19 10q22.3(chr10:81603169-81976925)x1	SFTPD, ANXA11 +2 more	Copy number loss	not provided	GLikely benign
Select item 563737	GRCh37/hg19 10q22.3(chr10:81617260-81976925)x1	ANXA11, PLAC9 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563734	GRCh37/hg19 10q22.3(chr10:81630468-81976925)x3	PLAC9, ANXA11 +2 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 442565	GRCh37/hg19 10q22.3(chr10:81614689-81976925)x1	ANXA11, PLAC9 +2 more	Copy number loss	See cases	GUncertain significance
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
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 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 83