"Ambry Genetics"[submitter] AND "GPHN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 5973	NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)	GPHN (N10Y)	Single nucleotide variant (missense variant)	Hyperekplexia 1 +3 more	GUncertain significance
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 534549	NM_020806.5(GPHN):c.86A>G (p.Asn29Ser)	GPHN (N29S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 466209	NM_020806.5(GPHN):c.271G>A (p.Ala91Thr)	GPHN (A91T)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GConflicting classifications of pathogenicity
Select item 2727687	NM_020806.5(GPHN):c.353G>A (p.Gly118Glu)	GPHN (G131E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3101305	NM_020806.5(GPHN):c.421A>T (p.Ile141Leu)	GPHN (I154L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1395598	NM_020806.5(GPHN):c.509G>A (p.Arg170His)	GPHN (R170H +1 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 2229202	NM_020806.5(GPHN):c.517A>G (p.Ile173Val)	GPHN (I173V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226784	NM_020806.5(GPHN):c.518T>C (p.Ile173Thr)	GPHN (I186T +1 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 2281393	NM_020806.5(GPHN):c.575C>T (p.Pro192Leu)	GPHN (P205L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420041	NM_020806.5(GPHN):c.779A>G (p.Gln260Arg)	GPHN (Q260R)	Single nucleotide variant (missense variant +1 more)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 466213	NM_020806.5(GPHN):c.800A>G (p.Asn267Ser)	GPHN (N267S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 2538211	NM_020806.5(GPHN):c.817A>G (p.Thr273Ala)	GPHN (T273A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2312607	NM_020806.5(GPHN):c.889A>T (p.Ser297Cys)	GPHN (S297C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291243	NM_020806.5(GPHN):c.893C>T (p.Thr298Ile)	GPHN (T298I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154576	NM_020806.5(GPHN):c.988G>C (p.Glu330Gln)	GPHN (E310Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 664311	NM_020806.5(GPHN):c.1033G>A (p.Val345Met)	GPHN (V345M +7 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 2190105	NM_020806.5(GPHN):c.1142G>A (p.Arg381Gln)	GPHN (R391Q +7 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 1007658	NM_020806.5(GPHN):c.1328G>A (p.Arg443Gln)	GPHN (R410Q +7 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 3101304	NM_020806.5(GPHN):c.1357G>A (p.Gly453Ser)	GPHN (G433S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282153	NM_020806.5(GPHN):c.1559C>G (p.Thr520Ser)	GPHN (T487S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301404	NM_020806.5(GPHN):c.1721C>T (p.Thr574Met)	GPHN (T574M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405489	NM_020806.5(GPHN):c.1768G>T (p.Ala590Ser)	GPHN (A557S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160779	NM_020806.5(GPHN):c.2303G>A (p.Arg768Gln)	GPHN (R754Q +7 more)	Single nucleotide variant (missense variant)	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C +1 more	GUncertain significance
Select item 3280713	NM_001395907.1(GARIN2):c.30G>A (p.Met10Ile)	GARIN2, GPHN (M10I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280714	NM_001395907.1(GARIN2):c.38A>G (p.Asn13Ser)	GARIN2, GPHN (N13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098365	NM_001395907.1(GARIN2):c.48T>A (p.Asp16Glu)	GARIN2, GPHN (D16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495431	NM_001395907.1(GARIN2):c.113A>G (p.Tyr38Cys)	GARIN2, GPHN (Y38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603622	NM_001395907.1(GARIN2):c.133C>T (p.Pro45Ser)	GARIN2, GPHN (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098356	NM_001395907.1(GARIN2):c.136A>G (p.Met46Val)	GARIN2, GPHN (M46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098357	NM_001395907.1(GARIN2):c.142G>A (p.Glu48Lys)	GARIN2, GPHN (E48K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098358	NM_001395907.1(GARIN2):c.164A>G (p.Asn55Ser)	GARIN2, GPHN (N55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622912	NM_001395907.1(GARIN2):c.172G>A (p.Gly58Ser)	GARIN2, GPHN (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098359	NM_001395907.1(GARIN2):c.179C>T (p.Ser60Phe)	GARIN2, GPHN (S60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098360	NM_001395907.1(GARIN2):c.185A>T (p.Tyr62Phe)	GARIN2, GPHN (Y62F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098361	NM_001395907.1(GARIN2):c.190C>A (p.His64Asn)	GARIN2, GPHN (H64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098362	NM_001395907.1(GARIN2):c.197G>A (p.Arg66Gln)	GARIN2, GPHN (R66Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098363	NM_001395907.1(GARIN2):c.233G>C (p.Ser78Thr)	GARIN2, GPHN (S78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538351	NM_001395907.1(GARIN2):c.239C>G (p.Thr80Ser)	GARIN2, GPHN (T80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098364	NM_001395907.1(GARIN2):c.395A>G (p.His132Arg)	GARIN2, GPHN (H132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609397	NM_001395907.1(GARIN2):c.437G>T (p.Gly146Val)	GARIN2, GPHN (G146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597312	NM_001395907.1(GARIN2):c.554C>T (p.Ser185Leu)	GARIN2, GPHN (S185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280715	NM_001395907.1(GARIN2):c.569T>C (p.Leu190Pro)	GARIN2, GPHN (L190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098366	NM_001395907.1(GARIN2):c.577A>C (p.Ile193Leu)	GARIN2, GPHN (I193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098367	NM_001395907.1(GARIN2):c.617C>T (p.Thr206Met)	GARIN2, GPHN (T206M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098368	NM_001395907.1(GARIN2):c.626C>T (p.Thr209Ile)	GARIN2, GPHN (T209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098369	NM_001395907.1(GARIN2):c.647C>G (p.Thr216Ser)	GARIN2, GPHN (T216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098370	NM_001395907.1(GARIN2):c.650C>T (p.Pro217Leu)	GARIN2, GPHN (P217L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098371	NM_001395907.1(GARIN2):c.691A>T (p.Ser231Cys)	GARIN2, GPHN (S231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098372	NM_001395907.1(GARIN2):c.724G>A (p.Asp242Asn)	GARIN2, GPHN (D242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098373	NM_001395907.1(GARIN2):c.736G>A (p.Val246Ile)	GARIN2, GPHN (V246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280711	NM_001395907.1(GARIN2):c.763C>T (p.Pro255Ser)	GARIN2, GPHN (P255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280712	NM_001395907.1(GARIN2):c.818C>T (p.Thr273Met)	GARIN2, GPHN (T273M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098374	NM_001395907.1(GARIN2):c.842T>C (p.Ile281Thr)	GARIN2, GPHN (I281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098375	NM_001395907.1(GARIN2):c.868G>A (p.Val290Met)	GARIN2, GPHN (V290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098376	NM_001395907.1(GARIN2):c.893G>T (p.Arg298Met)	GARIN2, GPHN (R298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531073	NM_001395907.1(GARIN2):c.899A>G (p.Lys300Arg)	GARIN2, GPHN (K300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098353	NM_001395907.1(GARIN2):c.1097A>G (p.Asp366Gly)	GARIN2, GPHN (D366G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542855	NM_001395907.1(GARIN2):c.1183A>T (p.Thr395Ser)	GARIN2, GPHN (T395S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595840	NM_001395907.1(GARIN2):c.1184C>T (p.Thr395Ile)	GARIN2, GPHN (T395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595283	NM_173526.4(GARIN2):c.1219A>G (p.Asn407Asp)	GARIN2, GPHN (N407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098354	NM_173526.4(GARIN2):c.1252C>G (p.Pro418Ala)	GARIN2, GPHN (P418A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 3131919	NM_015994.4(ATP6V1D):c.613A>C (p.Ile205Leu)	ATP6V1D, GPHN (I205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375423	NM_015994.4(ATP6V1D):c.599A>T (p.Tyr200Phe)	ATP6V1D, GPHN (Y200F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131918	NM_015994.4(ATP6V1D):c.587G>A (p.Arg196Gln)	ATP6V1D, GPHN (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131917	NM_015994.4(ATP6V1D):c.490A>G (p.Ile164Val)	ATP6V1D, GPHN (I164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131916	NM_015994.4(ATP6V1D):c.484A>G (p.Ile162Val)	ATP6V1D, GPHN (I162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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