FGF10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 2431095	NM_004465.2(FGF10):c.*1093A>G	FGF10	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GPathogenic
Select item 7530	NC_000005.10:g.(44304226_44304232)_(44357318_44357323)del	FGF10	Deletion	Congenital absence of salivary gland	GPathogenic
Select item 2431174	NM_004465.2(FGF10):c.*723C>A	FGF10	Single nucleotide variant (3 prime UTR variant)	Lung adenocarcinoma	GUncertain significance
Select item 369476	NM_004465.1(FGF10):c.*5A>T	FGF10	Single nucleotide variant (genic downstream transcript variant)	Levy-Hollister syndrome +2 more	GBenign/Likely benign
Select item 353721	NM_004465.2(FGF10):c.624A>G (p.Ser208=)	FGF10	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288912	NM_004465.2(FGF10):c.620A>C (p.His207Pro)	FGF10 (H207P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1913342	NM_004465.2(FGF10):c.613G>A (p.Val205Met)	FGF10 (V205M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 907811	NM_004465.2(FGF10):c.610A>G (p.Met204Val)	FGF10 (M204V)	Single nucleotide variant (missense variant)	Congenital absence of salivary gland +1 more	GConflicting classifications of pathogenicity
Select item 353722	NM_004465.2(FGF10):c.591C>T (p.Thr197=)	FGF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2828502	NM_004465.2(FGF10):c.581G>A (p.Arg194Lys)	FGF10 (R194K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7529	NM_004465.2(FGF10):c.577C>T (p.Arg193Ter)	FGF10 (R193*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2368459	NM_004465.2(FGF10):c.553G>A (p.Ala185Thr)	FGF10 (A185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 547377	NM_004465.2(FGF10):c.550G>A (p.Gly184Arg)	FGF10 (G184R)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 547376	NM_004465.2(FGF10):c.541A>C (p.Asn181His)	FGF10 (N181H)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome +1 more	GUncertain significance
Select item 2028446	NM_004465.2(FGF10):c.539T>C (p.Leu180Ser)	FGF10 (L180S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828258	NM_004465.2(FGF10):c.527T>C (p.Met176Thr)	FGF10 (M176T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452864	NM_004465.2(FGF10):c.526del (p.Met176fs)	FGF10 (M176fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 7532	NM_004465.2(FGF10):c.467T>G (p.Ile156Arg)	FGF10 (I156R)	Single nucleotide variant (missense variant)	Lacrimoauriculodentodigital syndrome 3	GPathogenic
Select item 2542857	NM_004465.2(FGF10):c.453G>C (p.Lys151Asn)	FGF10 (K151N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 353723	NM_004465.2(FGF10):c.430-15G>C	FGF10	Single nucleotide variant (intron variant)	Congenital absence of salivary gland +1 more	GBenign
Select item 1183828	NM_004465.2(FGF10):c.430-80G>A	FGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191155	NM_004465.2(FGF10):c.430-93_430-92del	FGF10	Deletion (intron variant)	not provided	GLikely benign
Select item 1271424	NM_004465.2(FGF10):c.430-221A>T	FGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182654	NM_004465.2(FGF10):c.429+280C>T	FGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201459	NM_004465.2(FGF10):c.429+210del	FGF10	Deletion (intron variant)	not provided	GLikely benign
Select item 1270169	NM_004465.2(FGF10):c.429+37T>A	FGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340916	NM_004465.2(FGF10):c.429+4A>G	FGF10	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 353724	NM_004465.2(FGF10):c.426C>T (p.Gly142=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland	GLikely benign
Select item 907812	NM_004465.2(FGF10):c.423T>C (p.Tyr141=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland +1 more	GConflicting classifications of pathogenicity
Select item 7535	NM_004465.2(FGF10):c.413G>A (p.Gly138Glu)	FGF10 (G138E)	Single nucleotide variant (missense variant)	Congenital absence of salivary gland	GPathogenic
Select item 7533	NM_004465.2(FGF10):c.409A>T (p.Lys137Ter)	FGF10 (K137*)	Single nucleotide variant (nonsense)	Congenital absence of salivary gland +1 more	GPathogenic
Select item 547375	NM_004465.2(FGF10):c.401T>A (p.Met134Lys)	FGF10 (M134K)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 1801340	NM_004465.2(FGF10):c.374C>A (p.Ala125Asp)	FGF10 (A125D)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome +1 more	GLikely pathogenic
Select item 2147681	NM_004465.2(FGF10):c.367G>A (p.Val123Ile)	FGF10 (V123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547374	NM_004465.2(FGF10):c.356del (p.Gly119fs)	FGF10 (G119fs)	Deletion (frameshift variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 2575897	NM_004465.2(FGF10):c.355G>A (p.Gly119Arg)	FGF10 (G119R)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GLikely pathogenic
Select item 2171282	NM_004465.2(FGF10):c.354C>T (p.Ile118=)	FGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663361	NM_004465.2(FGF10):c.325+22915G>T	FGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707451	Single allele	FGF10, FGF10-AS1 +5 more	Duplication	not specified	GUncertain significance
Select item 1599872	NM_004465.2(FGF10):c.325+3045C>T	FGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598837	NM_004465.2(FGF10):c.325+15C>A	FGF10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006694	NM_004465.2(FGF10):c.325+12A>C	FGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194116	NM_004465.2(FGF10):c.325+8A>G	FGF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7531	NM_004465.2(FGF10):c.317G>T (p.Cys106Phe)	FGF10 (C106F)	Single nucleotide variant (missense variant)	Lacrimoauriculodentodigital syndrome 3	GPathogenic
Select item 451206	NM_004465.2(FGF10):c.267dup (p.Leu90fs)	FGF10 (L90fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 353725	NM_004465.2(FGF10):c.261G>A (p.Lys87=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland	GBenign
Select item 547373	NM_004465.2(FGF10):c.256del (p.Thr86fs)	FGF10 (T86fs)	Deletion (frameshift variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 7534	NM_004465.2(FGF10):c.240A>C (p.Arg80Ser)	FGF10 (R80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2664283	NM_004465.2(FGF10):c.237G>A (p.Trp79Ter)	FGF10 (W79*)	Single nucleotide variant (nonsense)	Lacrimoauriculodentodigital syndrome 3	GPathogenic
Select item 2691789	NM_004465.2(FGF10):c.234dup (p.Trp79fs)	FGF10 (W79fs)	Duplication (frameshift variant)	Lacrimoauriculodentodigital syndrome 3	GPathogenic
Select item 547372	NM_004465.2(FGF10):c.232del (p.Arg78fs)	FGF10 (R78fs)	Deletion (frameshift variant)	Levy-Hollister syndrome	GLikely pathogenic
Select item 3369362	NM_004465.2(FGF10):c.193_225del (p.Arg65_Gly75del)	FGF10	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 1568976	NM_004465.2(FGF10):c.216C>T (p.His72=)	FGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368007	NM_004465.2(FGF10):c.198_199insA (p.Val67fs)	FGF10 (V67fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2971903	NM_004465.2(FGF10):c.191G>T (p.Gly64Val)	FGF10 (G64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1322898	NM_004465.2(FGF10):c.190G>T (p.Gly64Ter)	FGF10 (G64*)	Single nucleotide variant (nonsense)	Levy-Hollister syndrome +1 more	GPathogenic
Select item 353726	NM_004465.2(FGF10):c.186C>A (p.Ser62Arg)	FGF10 (S62R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2549501	NM_004465.2(FGF10):c.155C>A (p.Ser52Tyr)	FGF10 (S52Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 353727	NM_004465.2(FGF10):c.144G>A (p.Glu48=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland	GUncertain significance
Select item 3278618	NM_004465.2(FGF10):c.134T>A (p.Val45Glu)	FGF10 (V45E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246123	NM_004465.2(FGF10):c.133G>C (p.Val45Leu)	FGF10 (V45L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206311	NM_004465.2(FGF10):c.130A>G (p.Met44Val)	FGF10 (M44V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 930542	NM_004465.2(FGF10):c.116C>A (p.Ala39Asp)	FGF10 (A39D)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome	GUncertain significance
Select item 2877750	NM_004465.2(FGF10):c.112C>G (p.Gln38Glu)	FGF10 (Q38E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632631	NM_004465.2(FGF10):c.109T>C (p.Cys37Arg)	FGF10 (C37R)	Single nucleotide variant (missense variant)	FGF10-related disorder	GUncertain significance
Select item 757093	NM_004465.2(FGF10):c.102T>G (p.Pro34=)	FGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009733	NM_004465.2(FGF10):c.101del (p.Pro34fs)	FGF10 (P34fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 193283	NM_004465.2(FGF10):c.97G>A (p.Val33Ile)	FGF10 (V33I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2050886	NM_004465.2(FGF10):c.53GCT[5] (p.Cys23del)	FGF10 (C23del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2171727	NM_004465.2(FGF10):c.64T>C (p.Cys22Arg)	FGF10 (C22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2730620	NM_004465.2(FGF10):c.60C>T (p.Cys20=)	FGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054477	NM_004465.2(FGF10):c.48G>T (p.Leu16=)	FGF10	Single nucleotide variant (synonymous variant)	FGF10-related disorder	GLikely benign
Select item 2064087	NM_004465.2(FGF10):c.48G>A (p.Leu16=)	FGF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155164	NM_004465.2(FGF10):c.41C>T (p.Pro14Leu)	FGF10 (P14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3254622	NM_004465.2(FGF10):c.1_31delinsGCAGCCTTTCAGTTTCAG (p.Met1fs)	FGF10 (M1fs)	Indel (frameshift variant +1 more)	Congenital absence of salivary gland	GLikely pathogenic
Select item 2629658	NM_004465.2(FGF10):c.16C>A (p.Leu6Met)	FGF10 (L6M)	Single nucleotide variant (missense variant)	FGF10-related disorder	GUncertain significance
Select item 1516807	NM_004465.2(FGF10):c.10T>C (p.Trp4Arg)	FGF10 (W4R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547371	NM_004465.2(FGF10):c.1A>G (p.Met1Val)	FGF10 (M1V)	Single nucleotide variant (missense variant +1 more)	Levy-Hollister syndrome	GLikely pathogenic
Select item 3055076	NM_004465.2(FGF10):c.-10T>A	FGF10	Single nucleotide variant (5 prime UTR variant)	FGF10-related disorder	GUncertain significance
Select item 1248426	NM_004465.2(FGF10):c.-33G>A	FGF10	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1236153	NM_004465.2(FGF10):c.-294del	FGF10, FGF10-AS1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 3246316	NC_000005.9:g.(?_42688972)_(45303961_?)dup	ANXA2R, C5orf34 +12 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3062821	GRCh37/hg19 5p12-11(chr5:43949281-46116307)x1	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 2684413	GRCh37/hg19 5p12(chr5:43680944-45642977)x3	FGF10, HCN1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527162	GRCh37/hg19 5p12-11(chr5:43972062-46101844)	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527161	GRCh37/hg19 5p12-11(chr5:43855245-46389339)	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1458418	NC_000005.9:g.(?_42688972)_(44388784_?)del	ANXA2R, C5orf34 +10 more	Deletion	not provided	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1064421	NC_000005.9:g.44300489_44312646del	FGF10	Deletion	Primary pulmonary hypoplasia +1 more	GPathogenic
Select item 1042586	NC_000005.9:g.(?_44305097)_(45696195_?)dup	FGF10, HCN1 +1 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance

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