ClinVar for Gene (Select 80233) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277019	NM_025161.6(FAAP100):c.664G>A (p.Asp222Asn)	FAAP100 (D222N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277018	NM_025161.6(FAAP100):c.912C>G (p.Asp304Glu)	FAAP100 (D304E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277017	NM_025161.6(FAAP100):c.1238C>T (p.Thr413Met)	FAAP100 (T413M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277015	NM_025161.6(FAAP100):c.1676C>T (p.Ala559Val)	FAAP100 (A559V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277014	NM_025161.6(FAAP100):c.1454G>A (p.Ser485Asn)	FAAP100 (S485N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277013	NM_025161.6(FAAP100):c.1768G>A (p.Gly590Ser)	FAAP100 (G590S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277012	NM_025161.6(FAAP100):c.343G>A (p.Val115Met)	FAAP100 (V115M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3091531	NM_025161.6(FAAP100):c.967G>A (p.Ala323Thr)	FAAP100 (A323T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091530	NM_025161.6(FAAP100):c.733C>G (p.Leu245Val)	FAAP100 (L245V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091529	NM_025161.6(FAAP100):c.625C>A (p.His209Asn)	FAAP100 (H209N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091528	NM_025161.6(FAAP100):c.421G>A (p.Val141Ile)	FAAP100 (V141I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091527	NM_025161.6(FAAP100):c.278C>T (p.Pro93Leu)	FAAP100, LOC130061951 (P93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091526	NM_025161.6(FAAP100):c.2573G>C (p.Ser858Thr)	FAAP100 (S858T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091525	NM_025161.6(FAAP100):c.2174G>A (p.Gly725Asp)	FAAP100 (G725D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091524	NM_025161.6(FAAP100):c.2126A>G (p.Lys709Arg)	FAAP100 (K709R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3091523	NM_025161.6(FAAP100):c.2090G>A (p.Arg697Gln)	FAAP100 (R697Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091522	NM_025161.6(FAAP100):c.1732C>T (p.Arg578Trp)	FAAP100 (R578W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091521	NM_025161.6(FAAP100):c.1699A>G (p.Ile567Val)	FAAP100 (I567V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091520	NM_025161.6(FAAP100):c.1588G>C (p.Glu530Gln)	FAAP100 (E530Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091519	NM_025161.6(FAAP100):c.1574C>T (p.Ala525Val)	FAAP100 (A525V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091518	NM_025161.6(FAAP100):c.1546C>T (p.Arg516Cys)	FAAP100 (R516C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091517	NM_025161.6(FAAP100):c.1502C>T (p.Thr501Met)	FAAP100 (T501M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091516	NM_025161.6(FAAP100):c.147G>C (p.Gln49His)	FAAP100, LOC130061952 (Q49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091515	NM_025161.6(FAAP100):c.1171C>T (p.Pro391Ser)	FAAP100 (P391S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648460	NM_025161.6(FAAP100):c.1433A>G (p.Gln478Arg)	FAAP100 (Q478R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2617066	NM_025161.6(FAAP100):c.874C>G (p.Pro292Ala)	FAAP100 (P292A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607431	NM_025161.6(FAAP100):c.828T>G (p.His276Gln)	FAAP100 (H276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593672	NM_025161.6(FAAP100):c.679C>T (p.Leu227Phe)	FAAP100 (L227F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590836	NM_025161.6(FAAP100):c.1705G>A (p.Val569Met)	FAAP100 (V569M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568218	NM_025161.6(FAAP100):c.2461A>G (p.Ser821Gly)	FAAP100 (S821G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549694	NM_025161.6(FAAP100):c.628G>A (p.Asp210Asn)	FAAP100 (D210N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531528	NM_025161.6(FAAP100):c.1621T>C (p.Trp541Arg)	FAAP100 (W541R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518382	NM_025161.6(FAAP100):c.991T>G (p.Ser331Ala)	FAAP100 (S331A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2511335	NM_025161.6(FAAP100):c.61C>G (p.Leu21Val)	FAAP100, LOC130061952 (L21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470639	NM_025161.6(FAAP100):c.1117C>T (p.Arg373Trp)	FAAP100 (R373W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468925	NM_025161.6(FAAP100):c.2053G>C (p.Glu685Gln)	FAAP100 (E685Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468849	NM_025161.6(FAAP100):c.1282C>T (p.Arg428Cys)	FAAP100 (R428C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459464	NM_025161.6(FAAP100):c.1673C>T (p.Ser558Leu)	FAAP100 (S558L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454367	NM_025161.6(FAAP100):c.1462G>A (p.Glu488Lys)	FAAP100 (E488K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2410015	NM_025161.6(FAAP100):c.955G>A (p.Gly319Ser)	FAAP100 (G319S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403205	NM_025161.6(FAAP100):c.52C>T (p.Leu18Phe)	FAAP100, LOC130061952 (L18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384232	NM_025161.6(FAAP100):c.994G>A (p.Gly332Arg)	FAAP100 (G332R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382313	NM_025161.6(FAAP100):c.1226C>T (p.Ala409Val)	FAAP100 (A409V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379334	NM_025161.6(FAAP100):c.2543G>A (p.Arg848His)	FAAP100 (R848H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377491	NM_025161.6(FAAP100):c.1160C>T (p.Pro387Leu)	FAAP100 (P387L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340666	NM_025161.6(FAAP100):c.1961G>A (p.Arg654His)	FAAP100 (R654H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327408	NM_025161.6(FAAP100):c.658C>G (p.Leu220Val)	FAAP100 (L220V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323870	NM_025161.6(FAAP100):c.245G>A (p.Arg82Gln)	FAAP100, LOC130061951 (R82Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322850	NM_025161.6(FAAP100):c.1474G>C (p.Val492Leu)	FAAP100 (V492L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2314208	NM_025161.6(FAAP100):c.2246G>A (p.Arg749Gln)	FAAP100 (R749Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2300102	NM_025161.6(FAAP100):c.1771G>A (p.Gly591Arg)	FAAP100 (G591R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294565	NM_025161.6(FAAP100):c.2290G>A (p.Val764Ile)	FAAP100 (V764I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282265	NM_025161.6(FAAP100):c.2429C>T (p.Thr810Met)	FAAP100 (T810M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279913	NM_025161.6(FAAP100):c.325G>A (p.Gly109Ser)	FAAP100 (G109S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2277205	NM_025161.6(FAAP100):c.1900G>A (p.Glu634Lys)	FAAP100 (E634K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276152	NM_025161.6(FAAP100):c.307G>C (p.Asp103His)	FAAP100 (D103H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263796	NM_025161.6(FAAP100):c.2246G>C (p.Arg749Pro)	FAAP100 (R749P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262433	NM_025161.6(FAAP100):c.154G>T (p.Gly52Trp)	FAAP100, LOC130061952 (G52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259452	NM_025161.6(FAAP100):c.1714C>T (p.Leu572Phe)	FAAP100 (L572F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256783	NM_025161.6(FAAP100):c.448T>G (p.Trp150Gly)	FAAP100 (W150G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246000	NM_025161.6(FAAP100):c.1298G>T (p.Ser433Ile)	FAAP100 (S433I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243019	NM_025161.6(FAAP100):c.1960C>T (p.Arg654Cys)	FAAP100 (R654C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228261	NM_025161.6(FAAP100):c.860C>T (p.Ala287Val)	FAAP100 (A287V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225351	NM_025161.6(FAAP100):c.1150G>A (p.Glu384Lys)	FAAP100 (E384K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215106	NM_025161.6(FAAP100):c.1009G>A (p.Glu337Lys)	FAAP100 (E337K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213529	NM_025161.6(FAAP100):c.1777G>A (p.Asp593Asn)	FAAP100 (D593N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687541	GRCh37/hg19 17q25.3(chr17:79496613-79693150)x3	ARL16, CCDC137 +9 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 560126	Single allele	FAAP100, FSCN2	Duplication	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395638	GRCh37/hg19 17q25.3(chr17:79495582-79514678)x3	FAAP100, FSCN2	Copy number gain	See cases	GBenign
Select item 393767	GRCh37/hg19 17q25.3(chr17:79518741-79601555)x1	FAAP100, NPLOC4	Copy number loss	See cases	GBenign
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 90