6440[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC129999940, LOC129999941 +687 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 59770	GRCh38/hg38 8p21.3(chr8:21654619-23001935)x3	BIN3, BIN3-IT1 +119 more	Copy number gain	See cases	GPathogenic
Select item 1221063	NM_001385654.1(SFTPC):c.-53-218G>A	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362544	NM_003018.3(SFTPC):c.-134G>C	BMP1, SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +4 more	GBenign/Likely benign
Select item 362545	NM_003018.3(SFTPC):c.-92C>G	SFTPC	Single nucleotide variant (intron variant)	Interstitial lung disease 2 +1 more	GBenign
Select item 362546	NM_003018.3(SFTPC):c.-91C>T	SFTPC	Single nucleotide variant (intron variant)	Interstitial lung disease 2 +1 more	GBenign
Select item 362547	NM_003018.3(SFTPC):c.-67C>T	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +2 more	GLikely benign
Select item 362548	NM_003018.3(SFTPC):c.-56_-55dup	SFTPC	Duplication (splice acceptor variant)	Interstitial lung disease 2 +1 more	GLikely benign
Select item 362549	NM_001317778.2(SFTPC):c.-26GAG[1]	SFTPC	Microsatellite (5 prime UTR variant)	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 3053743	NM_001317778.2(SFTPC):c.-10C>G	SFTPC	Single nucleotide variant (5 prime UTR variant)	SFTPC-related disorder	GLikely benign
Select item 972679	NM_001317778.2(SFTPC):c.10G>A (p.Gly4Ser)	SFTPC (G4S)	Single nucleotide variant (missense variant)	Surfactant metabolism dysfunction, pulmonary, 1	GUncertain significance
Select item 362550	NM_001317778.2(SFTPC):c.24C>G (p.Val8=)	SFTPC	Single nucleotide variant (synonymous variant)	Interstitial lung disease 2 +4 more	GBenign/Likely benign
Select item 3032743	NM_001317778.2(SFTPC):c.38C>T (p.Pro13Leu)	SFTPC (P13L)	Single nucleotide variant (missense variant)	SFTPC-related disorder	GUncertain significance
Select item 1736871	NM_001317778.2(SFTPC):c.39G>A (p.Pro13=)	SFTPC	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 3160963	NM_001317778.2(SFTPC):c.41C>T (p.Pro14Leu)	SFTPC (P14L)	Single nucleotide variant (missense variant)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 362551	NM_001317778.2(SFTPC):c.42G>A (p.Pro14=)	SFTPC	Single nucleotide variant (synonymous variant)	Hereditary pulmonary alveolar proteinosis +3 more	GConflicting classifications of pathogenicity
Select item 667158	NM_001317778.2(SFTPC):c.42+14C>T	SFTPC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1530035	NM_001317778.2(SFTPC):c.42+17G>A	SFTPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268807	NM_001317778.2(SFTPC):c.42+35G>A	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283058	NM_001317778.2(SFTPC):c.42+37G>A	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282885	NM_001317778.2(SFTPC):c.43-275G>A	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282020	NM_001317778.2(SFTPC):c.43-247A>G	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244660	NM_001317778.2(SFTPC):c.43-194G>A	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293884	NM_001317778.2(SFTPC):c.43-87C>T	SFTPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272642	NM_001317778.2(SFTPC):c.43-21T>C	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign
Select item 2419925	NM_001317778.2(SFTPC):c.43-8C>T	SFTPC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 362552	NM_001317778.2(SFTPC):c.43-7G>A	SFTPC	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1752721	NM_001317778.2(SFTPC):c.62G>A (p.Arg21Gln)	SFTPC (R21Q)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 909206	NM_001317778.2(SFTPC):c.68G>A (p.Arg23Gln)	SFTPC (R23Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1695941	NM_001317778.2(SFTPC):c.83G>A (p.Cys28Tyr)	SFTPC (C28Y)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 1765042	NM_001317778.2(SFTPC):c.88C>T (p.Pro30Ser)	SFTPC (P30S)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1767165	NM_001317778.2(SFTPC):c.94C>T (p.His32Tyr)	SFTPC (H32Y)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1720490	NM_001317778.2(SFTPC):c.95A>T (p.His32Leu)	SFTPC (H32L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3357605	NM_001317778.2(SFTPC):c.104G>A (p.Arg35His)	SFTPC (R35H)	Single nucleotide variant (missense variant +1 more)	SFTPC-related disorder	GUncertain significance
Select item 1695926	NM_001317778.2(SFTPC):c.121_147dup (p.Val49_Ile50insValValValValLeuIleValValVal)	SFTPC	Duplication (inframe_insertion +1 more)	Pulmonary fibrosis	GLikely risk allele
Select item 3362663	NM_001317778.2(SFTPC):c.117GGT[7] (p.Val44_Leu45insValVal)	SFTPC	Microsatellite (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely benign
Select item 1914124	NM_001317778.2(SFTPC):c.117GGT[6] (p.Val44_Leu45insVal)	SFTPC	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3369268	NM_001317778.2(SFTPC):c.115del (p.Val39fs)	SFTPC (V39fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2503267	NM_001317778.2(SFTPC):c.117GGT[4] (p.Val44del)	SFTPC (V44del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 235391	NM_001317778.2(SFTPC):c.115G>A (p.Val39Met)	SFTPC (V39M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 225466	NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu)	SFTPC (V39L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2575233	NM_001317778.2(SFTPC):c.134T>C (p.Leu45Pro)	SFTPC (L45P)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 1772220	NM_001317778.2(SFTPC):c.141C>T (p.Val47=)	SFTPC	Single nucleotide variant (synonymous variant +1 more)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 362553	NM_001317778.2(SFTPC):c.142G>A (p.Val48Met)	SFTPC (V48M)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +1 more	GLikely benign
Select item 1772906	NM_001317778.2(SFTPC):c.144G>A (p.Val48=)	SFTPC	Single nucleotide variant (synonymous variant +1 more)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 2435886	NM_001317778.2(SFTPC):c.150T>G (p.Ile50Met)	SFTPC (I50M)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 1331721	NM_001317778.2(SFTPC):c.158_190dup (p.Lys63_His64insProLeuLeuMetGlyLeuHisMetSerGlnLys)	SFTPC	Duplication (inframe_insertion +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 911206	NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr)	SFTPC (A53T)	Single nucleotide variant (missense variant +1 more)	Interstitial lung disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 2060531	NM_001317778.2(SFTPC):c.160C>T (p.Leu54=)	SFTPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 598978	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)	SFTPC (L55F)	Single nucleotide variant (missense variant +1 more)	Myopathy +14 more	GLikely pathogenic
Select item 362554	NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)	SFTPC (H59R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1780728	NM_001317778.2(SFTPC):c.181A>G (p.Ser61Gly)	SFTPC (S61G)	Single nucleotide variant (missense variant +1 more)	Hereditary pulmonary alveolar proteinosis	GUncertain significance
Select item 1705679	NM_001317778.2(SFTPC):c.187A>G (p.Lys63Glu)	SFTPC (K63E)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GUncertain significance
Select item 1700691	NM_001317778.2(SFTPC):c.192C>G (p.His64Gln)	SFTPC (H64Q)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GLikely pathogenic
Select item 1783398	NM_001317778.2(SFTPC):c.195G>A (p.Thr65=)	SFTPC	Single nucleotide variant (synonymous variant +1 more)	Hereditary pulmonary alveolar proteinosis	GLikely benign
Select item 13213	NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys)	SFTPC (E66K)	Single nucleotide variant (missense variant +1 more)	Surfactant metabolism dysfunction, pulmonary, 2	GPathogenic
Select item 2662081	NM_001317778.2(SFTPC):c.200T>C (p.Met67Thr)	SFTPC (M67T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508023	NM_001317778.2(SFTPC):c.201+3G>A	SFTPC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 165209	NM_001317778.2(SFTPC):c.201+14G>A	BMP1, SFTPC	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1280586	NM_001317778.2(SFTPC):c.201+49C>A	SFTPC	Single nucleotide variant (intron variant)	Surfactant metabolism dysfunction, pulmonary, 2 +1 more	GBenign

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