10243[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 148404	GRCh38/hg38 14q23.3(chr14:65753357-66523450)x3	CCDC196, GPHN +16 more	Copy number gain	See cases	GUncertain significance
Select item 153396	GRCh38/hg38 14q23.3(chr14:66345579-66848052)x1	CCDC196, GPHN +21 more	Copy number loss	See cases	GUncertain significance
Select item 1272888	NC_000014.9:g.66507125C>T	GPHN	Single nucleotide variant	not provided	GBenign
Select item 1253733	NC_000014.9:g.66507394C>T	GPHN	Single nucleotide variant	not provided	GLikely benign
Select item 1304488	NM_020806.5(GPHN):c.-1C>T	GPHN	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2692746	NM_020806.5(GPHN):c.6G>T (p.Ala2=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1564407	NM_020806.5(GPHN):c.9C>T (p.Thr3=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2173588	NM_020806.5(GPHN):c.12G>A (p.Glu4=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2838859	NM_020806.5(GPHN):c.20T>G (p.Ile7Ser)	GPHN (I7S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2053121	NM_020806.5(GPHN):c.20T>C (p.Ile7Thr)	GPHN (I7T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1374669	NM_020806.5(GPHN):c.25A>G (p.Thr9Ala)	GPHN (T9A)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 2129764	NM_020806.5(GPHN):c.26C>A (p.Thr9Asn)	GPHN (T9N)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 466208	NM_020806.5(GPHN):c.26C>G (p.Thr9Ser)	GPHN (T9S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 5973	NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	GPHN (N10Y)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +3 more	GUncertain significance
Select item 1995840	NM_020806.5(GPHN):c.42A>C (p.Gln14His)	GPHN (Q14H)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1896107	NM_020806.5(GPHN):c.42A>G (p.Gln14=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1448942	NM_020806.5(GPHN):c.49G>A (p.Val17Ile)	GPHN (V17I)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GConflicting classifications of pathogenicity
Select item 2006567	NM_020806.5(GPHN):c.57C>A (p.Val19=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2002942	NM_020806.5(GPHN):c.60T>A (p.Leu20=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 5972	NM_020806.4(GPHN):c.65-?_201+?del	GPHN, LOC129390637 +13 more	Deletion	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GPathogenic
Select item 2772226	NM_020806.5(GPHN):c.64+3A>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2035152	NM_020806.5(GPHN):c.64+6C>T	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1348746	NM_020806.5(GPHN):c.64+6C>A	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 855062	NM_020806.5(GPHN):c.64+6C>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1119686	NM_020806.5(GPHN):c.64+7G>A	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 772161	NM_020806.5(GPHN):c.64+8G>C	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GBenign
Select item 1148126	NM_020806.5(GPHN):c.64+9G>C	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1131924	NM_020806.5(GPHN):c.64+10G>A	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1941158	NM_020806.5(GPHN):c.64+16G>C	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 149961	GRCh38/hg38 14q23.3(chr14:66612131-66884969)x1	GPHN, LOC129390637 +8 more	Copy number loss	See cases	GUncertain significance
Select item 155169	GRCh38/hg38 14q23.3(chr14:66644735-66997452)x1	GPHN, LOC126861969 +10 more	Copy number loss	See cases	GUncertain significance
Select item 149613	GRCh38/hg38 14q23.3(chr14:66680039-66884969)x1	GPHN, LOC129390637 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1700718	NM_020806.5(GPHN):c.65-97dup	GPHN	Duplication (intron variant)	not provided	GLikely benign
Select item 1277317	NM_020806.5(GPHN):c.65-98_65-97del	GPHN	Deletion (intron variant)	not provided	GBenign
Select item 1182217	NM_020806.5(GPHN):c.65-97del	GPHN	Deletion (intron variant)	not provided	GBenign
Select item 1540192	NM_020806.5(GPHN):c.65-16C>T	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1538876	NM_020806.5(GPHN):c.65-12A>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 3019038	NM_020806.5(GPHN):c.65-9del	GPHN	Deletion (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 261355	NM_020806.5(GPHN):c.65-9T>C	GPHN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2048924	NM_020806.5(GPHN):c.65-6A>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 869154	NM_020806.5(GPHN):c.65-1G>C	GPHN	Single nucleotide variant (splice acceptor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely pathogenic
Select item 951911	NM_020806.5(GPHN):c.68G>C (p.Ser23Thr)	GPHN (S23T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1641387	NM_020806.5(GPHN):c.72T>C (p.Asp24=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1979595	NM_020806.5(GPHN):c.82A>G (p.Arg28Gly)	GPHN (R28G)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2693841	NM_020806.5(GPHN):c.83G>A (p.Arg28Lys)	GPHN (R28K)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 534549	NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	GPHN (N29S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2194555	NM_020806.5(GPHN):c.91G>A (p.Ala31Thr)	GPHN (A31T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 846899	NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)	GPHN (R34C)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1715013	NM_020806.5(GPHN):c.103A>G (p.Ser35Gly)	GPHN (S35G)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1358514	NM_020806.5(GPHN):c.111A>G (p.Ile37Met)	GPHN (I37M)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2835486	NM_020806.5(GPHN):c.112A>G (p.Asn38Asp)	GPHN (N38D)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2751573	NM_020806.5(GPHN):c.114T>C (p.Asn38=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1603956	NM_020806.5(GPHN):c.117C>G (p.Leu39=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 566679	NM_020806.5(GPHN):c.127G>A (p.Val43Ile)	GPHN (V43I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 377133	NM_020806.5(GPHN):c.127G>T (p.Val43Leu)	GPHN (V43L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1364281	NM_020806.5(GPHN):c.136C>T (p.Pro46Ser)	GPHN (P46S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2977360	NM_020806.5(GPHN):c.143T>G (p.Leu48Trp)	GPHN (L48W)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2695179	NM_020806.5(GPHN):c.143+9T>C	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1674316	NM_020806.5(GPHN):c.143+13C>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1263166	NM_020806.5(GPHN):c.143+90T>C	GPHN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209409	NM_020806.5(GPHN):c.143+123C>T	GPHN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269743	NM_020806.5(GPHN):c.143+221C>G	GPHN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286670	NM_020806.5(GPHN):c.143+232A>T	GPHN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 147794	GRCh38/hg38 14q23.3(chr14:66750744-66884969)x1	GPHN, LOC132090249 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1326641	NM_020806.5(GPHN):c.144-147T>C	GPHN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2098134	NM_020806.5(GPHN):c.144-18T>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1550706	NM_020806.5(GPHN):c.144-14T>C	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1581301	NM_020806.5(GPHN):c.144-13C>T	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 534552	NM_020806.5(GPHN):c.144-10C>T	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2014665	NM_020806.5(GPHN):c.144-1G>C	GPHN	Single nucleotide variant (splice acceptor variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely pathogenic
Select item 573810	NM_020806.5(GPHN):c.144G>T (p.Leu48Phe)	GPHN (L48F)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 495287	NC_000014.9:g.(?_66776464)_(66776521_?)del	GPHN	Deletion	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely pathogenic
Select item 1009436	NM_020806.5(GPHN):c.148G>A (p.Gly50Ser)	GPHN (G50S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2194774	NM_020806.5(GPHN):c.154A>G (p.Thr52Ala)	GPHN (T52A)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1127205	NM_020806.5(GPHN):c.156T>C (p.Thr52=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2146130	NM_020806.5(GPHN):c.157A>G (p.Ile53Val)	GPHN (I53V)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1506380	NM_020806.5(GPHN):c.158T>C (p.Ile53Thr)	GPHN (I53T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 2826364	NM_020806.5(GPHN):c.159A>C (p.Ile53=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1032857	NM_020806.5(GPHN):c.163G>T (p.Ala55Ser)	GPHN (A55S)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 534553	NM_020806.5(GPHN):c.165A>G (p.Ala55=)	GPHN	Single nucleotide variant (synonymous variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2059907	NM_020806.5(GPHN):c.168C>A (p.Tyr56Ter)	GPHN (Y56*)	Single nucleotide variant (nonsense)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GPathogenic
Select item 2144614	NM_020806.5(GPHN):c.170A>G (p.Lys57Arg)	GPHN (K57R)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 845070	NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)	GPHN (I58L)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1028686	NM_020806.5(GPHN):c.175G>A (p.Val59Ile)	GPHN (V59I)	Single nucleotide variant (missense variant)	Hyperekplexia 1	GUncertain significance
Select item 1493300	NM_020806.5(GPHN):c.188T>C (p.Ile63Thr)	GPHN (I63T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1035339	NM_020806.5(GPHN):c.198C>G (p.Ile66Met)	GPHN (I66M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 961083	NM_020806.5(GPHN):c.201+3A>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GUncertain significance
Select item 1612045	NM_020806.5(GPHN):c.201+11G>A	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1439761	NM_020806.5(GPHN):c.201+12C>T	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1557947	NM_020806.5(GPHN):c.201+17T>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 1228557	NM_020806.5(GPHN):c.201+258A>G	GPHN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 153164	GRCh38/hg38 14q23.3(chr14:66803404-66977069)x1	GPHN, LOC126861969 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1326663	NM_020806.5(GPHN):c.202-78A>G	GPHN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261701	NM_020806.5(GPHN):c.202-38A>G	GPHN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2418293	NM_020806.5(GPHN):c.202-20A>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign
Select item 2047968	NM_020806.5(GPHN):c.202-18A>G	GPHN	Single nucleotide variant (intron variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	GLikely benign

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