267[geneid] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	CFAP20, LOC101927556 +520 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 2236149	NM_001144.6(AMFR):c.1846G>T (p.Gly616Cys)	AMFR (G616C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115539	NM_001144.6(AMFR):c.1817C>T (p.Ala606Val)	AMFR (A511V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221329	NM_001144.6(AMFR):c.1786C>T (p.Arg596Cys)	AMFR (R596C +2 more)	Single nucleotide variant (missense variant)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2481533	NM_001144.6(AMFR):c.1654G>A (p.Gly552Ser)	AMFR (G552S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2301442	NM_001144.6(AMFR):c.1606C>T (p.Arg536Cys)	AMFR (R441C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371564	NM_001144.6(AMFR):c.1516C>T (p.Arg506Trp)	AMFR (R538W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485278	NM_001144.6(AMFR):c.1390A>T (p.Ile464Phe)	AMFR (I369F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502912	NM_001144.6(AMFR):c.1086-97_1380+375del	AMFR	Deletion (splice acceptor variant +1 more)	Spastic paraplegia 89, autosomal recessive	GPathogenic
Select item 3115512	NM_001144.6(AMFR):c.1345A>T (p.Ile449Phe)	AMFR (I354F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399009	NM_001144.6(AMFR):c.1345A>G (p.Ile449Val)	AMFR (I449V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456083	NM_001144.6(AMFR):c.1241G>A (p.Arg414His)	AMFR (R319H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115506	NM_001144.6(AMFR):c.1219G>C (p.Ala407Pro)	AMFR (A312P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689680	NM_001144.6(AMFR):c.1166G>A (p.Arg389His)	AMFR (R389H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3115503	NM_001144.6(AMFR):c.1165C>T (p.Arg389Cys)	AMFR (R294C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115497	NM_001144.6(AMFR):c.1153G>A (p.Ala385Thr)	AMFR (A290T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559643	NM_001144.6(AMFR):c.1097G>A (p.Arg366His)	AMFR (R366H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252670	NM_001144.6(AMFR):c.1092T>A (p.Cys364Ter)	AMFR (C269* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2264289	NM_001144.6(AMFR):c.1058A>C (p.Lys353Thr)	AMFR (K258T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115487	NM_001144.6(AMFR):c.1000C>A (p.Leu334Met)	AMFR (L334M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384517	NM_001144.6(AMFR):c.978T>G (p.Phe326Leu)	AMFR (F326L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549643	NC_000016.10:g.56402918_56428075dup	AMFR, LOC130059041	Duplication	Primary amenorrhea	GUncertain significance
Select item 3115593	NM_001144.6(AMFR):c.940A>G (p.Asn314Asp)	AMFR (N314D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211998	NM_001144.6(AMFR):c.929G>A (p.Arg310His)	AMFR (R215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115582	NM_001144.6(AMFR):c.919C>T (p.Arg307Cys)	AMFR (R212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543779	NM_001144.6(AMFR):c.877G>A (p.Val293Ile)	AMFR (V293I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502911	NM_001144.6(AMFR):c.871_874dup (p.Leu292fs)	AMFR (L197fs +1 more)	Duplication (frameshift variant)	Spastic paraplegia 89, autosomal recessive	GPathogenic
Select item 2365559	NM_001144.6(AMFR):c.821T>C (p.Met274Thr)	AMFR (M179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354843	NM_001144.6(AMFR):c.691G>T (p.Ala231Ser)	AMFR (A136S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292699	NM_001144.6(AMFR):c.623G>T (p.Gly208Val)	AMFR (G208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537500	NM_001144.6(AMFR):c.616A>G (p.Ile206Val)	AMFR (I111V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588201	NM_001144.6(AMFR):c.554G>A (p.Arg185Gln)	AMFR (R185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115555	NM_001144.6(AMFR):c.534G>A (p.Thr178=)	AMFR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 152761	GRCh38/hg38 16q13(chr16:56408248-56431952)x3	AMFR, LOC130059041 +1 more	Copy number gain	See cases	GUncertain significance
Select item 3292688	NM_001144.6(AMFR):c.503G>A (p.Arg168Gln)	AMFR (R168Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115551	NM_001144.6(AMFR):c.392T>A (p.Ile131Asn)	AMFR (I131N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502910	NM_001144.6(AMFR):c.369G>A (p.Trp123Ter)	AMFR (W123* +1 more)	Single nucleotide variant (nonsense)	Spastic paraplegia 89, autosomal recessive	GPathogenic
Select item 2502909	NM_001144.6(AMFR):c.254G>A (p.Trp85Ter)	AMFR, LOC130059041 (W85*)	Single nucleotide variant (nonsense)	Spastic paraplegia 89, autosomal recessive	GPathogenic
Select item 2510978	NM_001144.6(AMFR):c.212G>A (p.Arg71His)	AMFR, LOC130059041 (R71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403667	NM_001144.6(AMFR):c.211C>T (p.Arg71Cys)	AMFR, LOC130059041 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292709	NM_001144.6(AMFR):c.202C>T (p.Pro68Ser)	AMFR, LOC130059041 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292719	NM_001144.6(AMFR):c.188C>G (p.Pro63Arg)	AMFR, LOC130059041 (P63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597213	NM_001144.6(AMFR):c.166G>A (p.Glu56Lys)	AMFR, LOC130059041 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115565	NM_001144.6(AMFR):c.56G>T (p.Gly19Val)	AMFR, LOC130059041 (G19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502908	NM_001144.6(AMFR):c.12del (p.Phe5fs)	AMFR, LOC130059041 (F5fs)	Deletion (frameshift variant)	Spastic paraplegia 89, autosomal recessive	GPathogenic
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1705883	GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1	AMFR, CAPNS2 +7 more	Copy number loss	Global developmental delay	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526511	GRCh37/hg19 16q12.2(chr16:56269138-56618661)	AMFR, BBS2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564332	GRCh37/hg19 16q12.2(chr16:56355238-56487629)x1	AMFR, NUDT21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 70