ClinVar for Gene (Select 267) - ClinVar

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

Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2597213	NM_001144.6(AMFR):c.166G>A (p.Glu56Lys)	AMFR, LOC130059041 (E56K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588201	NM_001144.6(AMFR):c.554G>A (p.Arg185Gln)	AMFR (R185Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559643	NM_001144.6(AMFR):c.1097G>A (p.Arg366His)	AMFR (R366H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543779	NM_001144.6(AMFR):c.877G>A (p.Val293Ile)	AMFR (V293I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537500	NM_001144.6(AMFR):c.616A>G (p.Ile206Val)	AMFR (I111V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2510978	NM_001144.6(AMFR):c.212G>A (p.Arg71His)	AMFR, LOC130059041 (R71H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2502908	NM_001144.6(AMFR):c.12del (p.Phe5fs)	AMFR, LOC130059041 (F5fs)	Deletion (frameshift variant)	Spastic paraplegia 89, autosomal recessive	GPathogenic
Select item 2485278	NM_001144.6(AMFR):c.1390A>T (p.Ile464Phe)	AMFR (I369F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481533	NM_001144.6(AMFR):c.1654G>A (p.Gly552Ser)	AMFR (G552S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456083	NM_001144.6(AMFR):c.1241G>A (p.Arg414His)	AMFR (R319H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	CCL17, CCL22 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2403667	NM_001144.6(AMFR):c.211C>T (p.Arg71Cys)	AMFR, LOC130059041 (R71C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399009	NM_001144.6(AMFR):c.1345A>G (p.Ile449Val)	AMFR (I449V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384517	NM_001144.6(AMFR):c.978T>G (p.Phe326Leu)	AMFR (F326L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371564	NM_001144.6(AMFR):c.1516C>T (p.Arg506Trp)	AMFR (R538W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365559	NM_001144.6(AMFR):c.821T>C (p.Met274Thr)	AMFR (M179T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354843	NM_001144.6(AMFR):c.691G>T (p.Ala231Ser)	AMFR (A136S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301442	NM_001144.6(AMFR):c.1606C>T (p.Arg536Cys)	AMFR (R441C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264289	NM_001144.6(AMFR):c.1058A>C (p.Lys353Thr)	AMFR (K258T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236149	NM_001144.6(AMFR):c.1846G>T (p.Gly616Cys)	AMFR (G616C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211998	NM_001144.6(AMFR):c.929G>A (p.Arg310His)	AMFR (R215H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +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 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 689680	NM_001144.6(AMFR):c.1166G>A (p.Arg389His)	AMFR (R389H +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	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 549643	NC_000016.10:g.56402918_56428075dup	AMFR, LOC130059041	Duplication	Primary amenorrhea	GUncertain significance
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +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	ADCY7, ADGRG1 +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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 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	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	CARMIL2, CIAPIN1 +324 more	Complex	Breast ductal adenocarcinoma	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 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LINC02168, LINC02169 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 152761	GRCh38/hg38 16q13(chr16:56408248-56431952)x3	AMFR, LOC130059041 +1 more	Copy number gain	See cases	GUncertain significance
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	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

Links from Gene

Items: 57