18669[HGNC] - ClinVar

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Items: 59

	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 3208243	NM_022474.4(PALS1):c.79G>A (p.Glu27Lys)	GPHN, PALS1 (E27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1199395	NM_022474.4(PALS1):c.94C>T (p.His32Tyr)	GPHN, PALS1 (H32Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Atypical Rett syndrome	GUncertain significance
Select item 3304149	NM_022474.4(PALS1):c.98G>A (p.Arg33Gln)	GPHN, PALS1 (R33Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2637035	NM_022474.4(PALS1):c.137G>T (p.Arg46Met)	GPHN, PALS1 (R12M +1 more)	Single nucleotide variant (missense variant)	PALS1-related disorder	GUncertain significance
Select item 785461	NM_022474.4(PALS1):c.178C>T (p.Arg60Trp)	GPHN, PALS1 (R60W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3208234	NM_022474.4(PALS1):c.209G>C (p.Arg70Thr)	GPHN, PALS1 (R36T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609050	NM_022474.4(PALS1):c.227del (p.Lys76fs)	GPHN, PALS1 (K76fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3208235	NM_022474.4(PALS1):c.346C>T (p.His116Tyr)	GPHN, PALS1 (H82Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208237	NM_022474.4(PALS1):c.422C>T (p.Ser141Phe)	GPHN, PALS1 (S107F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208236	NM_022474.4(PALS1):c.422C>A (p.Ser141Tyr)	GPHN, PALS1 (S107Y +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557957	NM_022474.4(PALS1):c.424C>G (p.Gln142Glu)	GPHN, PALS1 (Q108E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304152	NM_022474.4(PALS1):c.512T>C (p.Val171Ala)	GPHN, PALS1 (V137A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208238	NM_022474.4(PALS1):c.525G>C (p.Lys175Asn)	GPHN, PALS1 (K175N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208240	NM_022474.4(PALS1):c.596C>T (p.Pro199Leu)	GPHN, PALS1 (P165L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035058	NM_022474.4(PALS1):c.620A>C (p.Glu207Ala)	GPHN, PALS1 (E173A +1 more)	Single nucleotide variant (missense variant)	PALS1-related disorder	GLikely benign
Select item 3208241	NM_022474.4(PALS1):c.734G>A (p.Ser245Asn)	GPHN, PALS1 (S211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619193	NM_022474.4(PALS1):c.744G>C (p.Gln248His)	GPHN, PALS1 (Q248H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208242	NM_022474.4(PALS1):c.784G>C (p.Ala262Pro)	GPHN, PALS1 (A228P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718352	NM_022474.4(PALS1):c.802-8A>T	GPHN, PALS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3208244	NM_022474.4(PALS1):c.811G>A (p.Val271Ile)	GPHN, PALS1 (V271I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304154	NM_022474.4(PALS1):c.832G>A (p.Val278Ile)	GPHN, PALS1 (V244I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491332	NM_022474.4(PALS1):c.850G>A (p.Val284Ile)	GPHN, PALS1 (V250I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491333	NM_022474.4(PALS1):c.856G>A (p.Gly286Arg)	GPHN, PALS1 (G286R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712147	NM_022474.4(PALS1):c.963+10C>T	GPHN, PALS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3208226	NM_022474.4(PALS1):c.1121A>T (p.Gln374Leu)	GPHN, PALS1 (Q340L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304155	NM_022474.4(PALS1):c.1133T>C (p.Ile378Thr)	GPHN, PALS1 (I344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443340	NM_022474.4(PALS1):c.1134A>G (p.Ile378Met)	GPHN, PALS1 (I344M +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 2635900	NM_022474.4(PALS1):c.1191C>G (p.Asp397Glu)	GPHN, PALS1 (D363E +1 more)	Single nucleotide variant (missense variant)	PALS1-related disorder	GUncertain significance
Select item 3208227	NM_022474.4(PALS1):c.1204C>T (p.Pro402Ser)	GPHN, PALS1 (P402S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304150	NM_022474.4(PALS1):c.1213G>A (p.Gly405Arg)	GPHN, PALS1 (G371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208228	NM_022474.4(PALS1):c.1285C>A (p.Pro429Thr)	GPHN, PALS1 (P395T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983221	NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly)	GPHN, PALS1 (E396G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GPathogenic
Select item 3304151	NM_022474.4(PALS1):c.1449C>G (p.Ile483Met)	GPHN, PALS1 (I483M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208229	NM_022474.4(PALS1):c.1494G>C (p.Arg498Ser)	GPHN, PALS1 (R498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208230	NM_022474.4(PALS1):c.1516C>T (p.Arg506Cys)	GPHN, PALS1 (R472C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523758	NM_022474.4(PALS1):c.1547G>A (p.Arg516Gln)	GPHN, PALS1 (R482Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 916016	NM_022474.4(PALS1):c.1555C>T (p.Arg519Ter)	GPHN, PALS1 (R485* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3208231	NM_022474.4(PALS1):c.1573G>A (p.Gly525Ser)	GPHN, PALS1 (G491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2722807	NM_022474.4(PALS1):c.1636A>T (p.Ile546Phe)	GPHN, PALS1 (I512F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3304153	NM_022474.4(PALS1):c.1690C>T (p.Arg564Trp)	GPHN, PALS1 (R530W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610203	NM_022474.4(PALS1):c.1703A>G (p.Asn568Ser)	GPHN, PALS1 (N534S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601162	NM_022474.4(PALS1):c.1871T>C (p.Ile624Thr)	GPHN, PALS1 (I624T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631553	NM_022474.4(PALS1):c.1921A>G (p.Thr641Ala)	GPHN, PALS1 (T607A +1 more)	Single nucleotide variant (missense variant)	PALS1-related disorder	GUncertain significance
Select item 728927	NM_022474.4(PALS1):c.1923G>A (p.Thr641=)	GPHN, PALS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3208233	NM_022474.4(PALS1):c.1931T>G (p.Val644Gly)	GPHN, PALS1 (V644G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063326	GRCh37/hg19 14q23.3-24.1(chr14:67491176-68153682)x3	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 2684729	GRCh37/hg19 14q23.3-24.1(chr14:67443098-68423187)x3	ARG2, ATP6V1D +13 more	Copy number gain	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527823	GRCh37/hg19 14q23.3-24.1(chr14:67443801-68153682)	ARG2, ATP6V1D +10 more	Copy number gain	not specified	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 1015841	NC_000014.8:g.(?_65937790)_(68354021_?)dup	RDH11, PLEK2 +14 more	Duplication	Leber congenital amaurosis 13	GUncertain significance
Select item 815669	GRCh37/hg19 14q23.3-24.1(chr14:67331167-68451970)x3	TMEM229B, PLEKHH1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442513	GRCh37/hg19 14q23.3(chr14:67010936-67763909)x1	GARIN2, GPHN +1 more	Copy number loss	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 59