19429[HGNC] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2901679	NM_173854.6(SLC41A1):c.1526C>T (p.Thr509Met)	SLC41A1 (T509M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2468017	NM_173854.6(SLC41A1):c.1520G>A (p.Arg507Gln)	SLC41A1 (R507Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1909046	NM_173854.6(SLC41A1):c.1465C>G (p.Leu489Val)	SLC41A1 (L489V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3319799	NM_173854.6(SLC41A1):c.1451C>T (p.Ala484Val)	SLC41A1 (A484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2000494	NM_173854.6(SLC41A1):c.1443C>T (p.Tyr481=)	LOC129932328, SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044708	NM_173854.6(SLC41A1):c.1371G>A (p.Leu457=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3164759	NM_173854.6(SLC41A1):c.1370T>G (p.Leu457Arg)	SLC41A1 (L457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164758	NM_173854.6(SLC41A1):c.1366C>G (p.Leu456Val)	SLC41A1 (L456V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215162	NM_173854.6(SLC41A1):c.1363A>G (p.Ile455Val)	SLC41A1 (I455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1960679	NM_173854.6(SLC41A1):c.1357-4C>G	SLC41A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3164757	NM_173854.6(SLC41A1):c.1340C>T (p.Thr447Ile)	SLC41A1 (T447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2151133	NM_173854.6(SLC41A1):c.1329C>A (p.Ile443=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048377	NM_173854.6(SLC41A1):c.1323C>T (p.Phe441=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2387338	NM_173854.6(SLC41A1):c.1246G>A (p.Val416Met)	SLC41A1 (V416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598061	NM_173854.6(SLC41A1):c.1232T>C (p.Val411Ala)	SLC41A1 (V411A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270504	NM_173854.6(SLC41A1):c.1207+39T>G	SLC41A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987404	NM_173854.6(SLC41A1):c.1207+15C>T	SLC41A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2058620	NM_173854.6(SLC41A1):c.1207+5C>T	SLC41A1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3164754	NM_173854.6(SLC41A1):c.1195T>A (p.Phe399Ile)	SLC41A1 (F399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395902	NM_173854.6(SLC41A1):c.1172G>A (p.Arg391His)	SLC41A1 (R391H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2716471	NM_173854.6(SLC41A1):c.1168C>T (p.Arg390Cys)	SLC41A1 (R390C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578086	NM_173854.6(SLC41A1):c.1161A>G (p.Gln387=)	SLC41A1	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 2 +1 more	GBenign/Likely benign
Select item 1899422	NM_173854.6(SLC41A1):c.1073-16G>A	SLC41A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899001	NM_173854.6(SLC41A1):c.1073-17C>G	SLC41A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183197	NM_173854.6(SLC41A1):c.1073-34C>T	SLC41A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249217	NM_173854.6(SLC41A1):c.1072+257A>T	SLC41A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598449	NM_173854.6(SLC41A1):c.993-4A>G	SLC41A1	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 2 +1 more	GLikely benign
Select item 1265898	NM_173854.6(SLC41A1):c.993-29del	SLC41A1	Deletion (intron variant)	not provided	GBenign
Select item 2840776	NM_173854.6(SLC41A1):c.970A>C (p.Ile324Leu)	SLC41A1 (I324L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079296	NM_173854.6(SLC41A1):c.954G>A (p.Ser318=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2489243	NM_173854.6(SLC41A1):c.946T>G (p.Leu316Val)	SLC41A1 (L316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464707	NM_173854.6(SLC41A1):c.920G>A (p.Arg307Gln)	SLC41A1 (R307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2896608	NM_173854.6(SLC41A1):c.854G>A (p.Arg285Gln)	SLC41A1 (R285Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005465	NM_173854.6(SLC41A1):c.845-14C>A	SLC41A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3319795	NM_173854.6(SLC41A1):c.832T>C (p.Tyr278His)	SLC41A1 (Y278H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164764	NM_173854.6(SLC41A1):c.815G>T (p.Gly272Val)	SLC41A1 (G272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2041875	NM_173854.6(SLC41A1):c.813A>T (p.Ser271=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1553777	NM_173854.6(SLC41A1):c.756C>T (p.Asn252=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887889	NM_173854.6(SLC41A1):c.747C>T (p.Asn249=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164762	NM_173854.6(SLC41A1):c.730C>T (p.Arg244Cys)	SLC41A1 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1911632	NM_173854.6(SLC41A1):c.704T>G (p.Ile235Ser)	SLC41A1 (I235S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319800	NM_173854.6(SLC41A1):c.703A>G (p.Ile235Val)	SLC41A1 (I235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192530	NM_173854.6(SLC41A1):c.698G>T (p.Gly233Val)	SLC41A1 (G233V)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 2	GPathogenic
Select item 2284278	NM_173854.6(SLC41A1):c.682G>T (p.Ala228Ser)	SLC41A1 (A228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2720566	NM_173854.6(SLC41A1):c.663C>T (p.Ser221=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393590	NM_173854.6(SLC41A1):c.640G>A (p.Ala214Thr)	SLC41A1 (A214T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164761	NM_173854.6(SLC41A1):c.635C>T (p.Pro212Leu)	SLC41A1 (P212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1962963	NM_173854.6(SLC41A1):c.623A>G (p.His208Arg)	SLC41A1 (H208R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980154	NM_173854.6(SLC41A1):c.618T>A (p.Asp206Glu)	SLC41A1 (D206E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3319796	NM_173854.6(SLC41A1):c.598G>A (p.Val200Ile)	SLC41A1 (V200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063912	NM_173854.6(SLC41A1):c.597C>T (p.Val199=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155316	NM_173854.6(SLC41A1):c.564G>A (p.Thr188=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1224700	NM_173854.6(SLC41A1):c.553-80G>A	SLC41A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965776	NM_173854.6(SLC41A1):c.521G>A (p.Arg174Gln)	SLC41A1 (R174Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713319	NM_173854.6(SLC41A1):c.423G>A (p.Ala141=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971299	NM_173854.6(SLC41A1):c.373-5C>T	SLC41A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2045711	NM_173854.6(SLC41A1):c.366C>T (p.Ile122=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1231809	NM_173854.6(SLC41A1):c.339C>T (p.Thr113=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2887077	NM_173854.6(SLC41A1):c.300G>T (p.Leu100=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308994	NM_173854.6(SLC41A1):c.295G>A (p.Gly99Arg)	SLC41A1 (G99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319797	NM_173854.6(SLC41A1):c.283T>C (p.Ser95Pro)	SLC41A1 (S95P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1956101	NM_173854.6(SLC41A1):c.269C>T (p.Pro90Leu)	SLC41A1 (P90L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2981546	NM_173854.6(SLC41A1):c.252C>A (p.Gly84=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331933	NM_173854.6(SLC41A1):c.236T>C (p.Val79Ala)	SLC41A1 (V79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2006612	NM_173854.6(SLC41A1):c.235G>T (p.Val79Phe)	SLC41A1 (V79F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221618	NM_173854.6(SLC41A1):c.232G>A (p.Asp78Asn)	SLC41A1 (D78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527190	NM_173854.6(SLC41A1):c.191A>T (p.Asp64Val)	SLC41A1 (D64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3012263	NM_173854.6(SLC41A1):c.169G>A (p.Ala57Thr)	SLC41A1 (A57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046080	NM_173854.6(SLC41A1):c.168C>T (p.Asn56=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167180	NM_173854.6(SLC41A1):c.156G>T (p.Glu52Asp)	SLC41A1 (E52D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108233	NM_173854.6(SLC41A1):c.147G>C (p.Val49=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111424	NM_173854.6(SLC41A1):c.139G>T (p.Val47Leu)	SLC41A1 (V47L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057024	NM_173854.6(SLC41A1):c.139G>A (p.Val47Ile)	SLC41A1 (V47I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3164756	NM_173854.6(SLC41A1):c.128A>T (p.Asp43Val)	SLC41A1 (D43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205137	NM_173854.6(SLC41A1):c.100G>C (p.Ala34Pro)	SLC41A1 (A34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2728290	NM_173854.6(SLC41A1):c.85G>A (p.Gly29Arg)	SLC41A1 (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3164763	NM_173854.6(SLC41A1):c.77A>T (p.Asp26Val)	SLC41A1 (D26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1961765	NM_173854.6(SLC41A1):c.69C>T (p.Cys23=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280978	NM_173854.6(SLC41A1):c.28G>A (p.Val10Ile)	SLC41A1 (V10I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420692	NM_173854.6(SLC41A1):c.21G>A (p.Pro7=)	SLC41A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164760	NM_173854.6(SLC41A1):c.20C>T (p.Pro7Leu)	SLC41A1 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688936	GRCh37/hg19 1q32.1(chr1:205759212-205790514)x1	SLC41A1	Copy number loss	not provided	GUncertain significance
Select item 687382	GRCh37/hg19 1q32.1(chr1:205759212-205790514)x1	SLC41A1	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 100