ClinVar for Gene (Select 106029312) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298762	NM_000265.7(NCF1):c.309C>A (p.Ser103Arg)	LOC106029312, NCF1 (S103R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 3235028	NM_000265.7(NCF1):c.682+5C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 3182083	NM_000265.7(NCF1):c.955C>T (p.Leu319Phe)	LOC106029312, NCF1 (L319F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182075	NM_000265.7(NCF1):c.526G>T (p.Ala176Ser)	LOC106029312, NCF1 (A176S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182070	NM_000265.7(NCF1):c.304A>G (p.Met102Val)	LOC106029312, NCF1 (M102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182068	NM_000265.7(NCF1):c.262G>A (p.Glu88Lys)	LOC106029312, NCF1 (E88K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182059	NM_000265.7(NCF1):c.1048C>T (p.Leu350Phe)	LOC106029312, NCF1 (L350F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182050	NM_000265.7(NCF1):c.1045C>G (p.Pro349Ala)	LOC106029312, NCF1 (P349A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182044	NM_000265.7(NCF1):c.1034G>A (p.Ser345Asn)	LOC106029312, NCF1 (S345N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182042	NM_000265.7(NCF1):c.1019G>T (p.Arg340Leu)	LOC106029312, NCF1 (R340L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103115	NM_173537.5(GTF2IRD2):c.365C>T (p.Ala122Val)	GTF2IRD2, LOC106029312 (A284V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3103101	NM_032999.4(GTF2I):c.1667C>T (p.Thr556Met)	GTF2I, LOC106029312 (T536M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067226	NM_000265.7(NCF1):c.387G>A (p.Thr129=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786565	NM_000265.7(NCF1):c.295A>G (p.Ser99Gly)	LOC106029312, NCF1 (S99G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2687930	NM_000265.7(NCF1):c.1051+36C>G	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2673108	NM_000265.7(NCF1):c.621G>A (p.Ala207=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673107	NM_032999.4(GTF2I):c.2112G>T (p.Pro704=)	GTF2I, LOC106029312	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657606	NM_173537.5(GTF2IRD2):c.6C>G (p.Ala2=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657605	NM_173537.5(GTF2IRD2):c.91G>A (p.Glu31Lys)	GTF2IRD2, LOC106029312 (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2657604	NM_173537.5(GTF2IRD2):c.491C>T (p.Thr164Ile)	GTF2IRD2, LOC106029312 (T164I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2657603	NM_173537.5(GTF2IRD2):c.630C>T (p.Cys210=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657602	NM_173537.5(GTF2IRD2):c.2146C>T (p.Arg716Cys)	GTF2IRD2, LOC106029312 (R524C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2657601	NM_000265.7(NCF1):c.1050C>G (p.Leu350=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657600	NM_000265.7(NCF1):c.247G>A (p.Gly83Arg)	LOC106029312, NCF1 (G83R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657599	NM_000265.7(NCF1):c.207C>T (p.Asn69=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657598	NM_032999.4(GTF2I):c.2477-2A>G	GTF2I, LOC106029312	Single nucleotide variant (splice acceptor variant)	not provided	GLikely benign
Select item 2657597	NM_032999.4(GTF2I):c.1657C>G (p.Gln553Glu)	GTF2I, LOC106029312 (Q512E +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2611433	NM_173537.5(GTF2IRD2):c.611T>C (p.Val204Ala)	GTF2IRD2, LOC106029312 (V204A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540850	NM_173537.5(GTF2IRD2):c.563G>A (p.Ser188Asn)	GTF2IRD2, LOC106029312 (S188N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521254	NM_173537.5(GTF2IRD2):c.332T>C (p.Val111Ala)	GTF2IRD2, LOC106029312 (V111A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512883	NM_032999.4(GTF2I):c.1880C>T (p.Pro627Leu)	GTF2I, LOC106029312 (P586L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507921	NM_000265.7(NCF1):c.512C>T (p.Ser171Leu)	LOC106029312, NCF1 (S171L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2487048	NM_173537.5(GTF2IRD2):c.68T>G (p.Val23Gly)	GTF2IRD2, LOC106029312 (V185G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486734	NM_032999.4(GTF2I):c.1361G>C (p.Gly454Ala)	GTF2I, LOC106029312 (G433A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473940	NM_000265.7(NCF1):c.571A>T (p.Ser191Cys)	LOC106029312, NCF1 (S191C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469103	NM_032999.4(GTF2I):c.1811C>T (p.Pro604Leu)	GTF2I, LOC106029312 (P583L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467509	NM_173537.5(GTF2IRD2):c.488C>T (p.Ala163Val)	GTF2IRD2, LOC106029312 (A163V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467508	NM_173537.5(GTF2IRD2):c.487G>T (p.Ala163Ser)	GTF2IRD2, LOC106029312 (A163S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457158	NM_000265.7(NCF1):c.220C>T (p.His74Tyr)	LOC106029312, NCF1 (H74Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434075	NM_000265.7(NCF1):c.575-6G>A	LOC106029312, NCF1	Single nucleotide variant (intron variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 2363676	NM_173537.5(GTF2IRD2):c.434T>C (p.Val145Ala)	GTF2IRD2, LOC106029312 (V307A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337196	NM_032999.4(GTF2I):c.2633G>A (p.Arg878Gln)	GTF2I, LOC106029312 (R837Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272055	NM_173537.5(GTF2IRD2):c.605C>A (p.Ser202Tyr)	GTF2IRD2, LOC106029312 (S32Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250938	NM_173537.5(GTF2IRD2):c.209C>T (p.Thr70Met)	GTF2IRD2, LOC106029312 (T232M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211500	NM_032999.4(GTF2I):c.1924G>A (p.Val642Ile)	GTF2I, LOC106029312 (V601I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685959	NM_000265.7(NCF1):c.153+14T>C	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1328005	NM_000265.7(NCF1):c.936C>T (p.His312=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1297511	NM_000265.7(NCF1):c.269G>A (p.Arg90His)	LOC106029312, NCF1 (R90H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1288745	NM_000265.7(NCF1):c.153+107C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285178	NM_000265.7(NCF1):c.496A>G (p.Asn166Asp)	LOC106029312, NCF1 (N166D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1284914	NM_000265.7(NCF1):c.345C>T (p.Leu115=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1273282	NM_000265.7(NCF1):c.153+73G>C	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247524	NM_000265.7(NCF1):c.153+220C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231830	NM_000265.7(NCF1):c.153+36C>T	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175021	NM_000265.7(NCF1):c.292T>G (p.Cys98Gly)	LOC106029312, NCF1 (C98G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 973652	NM_000265.7(NCF1):c.923C>T (p.Ala308Val)	LOC106029312, NCF1 (A308V)	Single nucleotide variant (missense variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GLikely benign
Select item 769216	NM_173537.5(GTF2IRD2):c.303A>G (p.Ser101=)	GTF2IRD2, LOC106029312	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 636728	NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs)	LOC106029312, NCF1 (Y97fs)	Duplication (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 636577	NM_000265.7(NCF1):c.124C>T (p.Arg42Trp)	LOC106029312, NCF1 (R42W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625985	NM_000265.7(NCF1):c.108G>A (p.Ser36=)	LOC106029312, NCF1	Single nucleotide variant (synonymous variant)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1	GUncertain significance
Select item 426990	NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	LOC106029312, NCF1 (W193*)	Single nucleotide variant (nonsense)	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 426714	NM_000265.7(NCF1):c.73-3C>A	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 403221	NM_000265.7(NCF1):c.295= (p.Ser99=)	LOC106029312, NCF1	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 403220	NM_000265.7(NCF1):c.153+14=	LOC106029312, NCF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 375467	NM_000265.6(NCF1):c.*179G>A	LOC106029312, NCF1	Single nucleotide variant	Hypertrophic cardiomyopathy 4	GPathogenic
Select item 280629	NM_000265.7(NCF1):c.186dup (p.Gly63fs)	LOC106029312, NCF1 (G63fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 252793	NM_173537.5(GTF2IRD2):c.307G>A (p.Glu103Lys)	GTF2IRD2, LOC106029312 (E103K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	LOC129998621, LOC129998622 +134 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 152805	GRCh38/hg38 7q11.23(chr7:74068087-75068321)x3	CASTOR2, CLIP2 +74 more	Copy number gain	See cases	GLikely benign
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 147810	GRCh38/hg38 7q11.23(chr7:74047652-74924037)x1	CLIP2, EIF4H +71 more	Copy number loss	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	LOC129998611, LOC129998612 +131 more	Copy number loss	See cases	GPathogenic
Select item 146774	GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60247	GRCh38/hg38 7q11.23(chr7:74176025-75361855)x1	CASTOR2, CLIP2 +72 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic

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