22198[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 2515867	NM_003910.4(BUD31):c.311G>C (p.Arg104Pro)	ATP5MF-PTCD1, BUD31 +1 more (R104P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3135636	NM_003910.4(BUD31):c.361G>A (p.Val121Met)	ATP5MF-PTCD1, BUD31 +1 more (V121M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559535	NM_003910.4(BUD31):c.428C>G (p.Ser143Cys)	ATP5MF-PTCD1, BUD31 +1 more (S143C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2657720	NM_015545.4(PTCD1):c.2091T>C (p.Leu697=)	ATP5MF-PTCD1, PTCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131757	NM_001198879.2(ATP5MF-PTCD1):c.2231G>A (p.Cys744Tyr)	ATP5MF-PTCD1, PTCD1 (C695Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329381	NM_001198879.2(ATP5MF-PTCD1):c.2227G>C (p.Gly743Arg)	ATP5MF-PTCD1, PTCD1 (G743R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131756	NM_001198879.2(ATP5MF-PTCD1):c.2227G>A (p.Gly743Arg)	ATP5MF-PTCD1, PTCD1 (G743R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131755	NM_001198879.2(ATP5MF-PTCD1):c.2217G>C (p.Glu739Asp)	ATP5MF-PTCD1, PTCD1 (E690D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131754	NM_001198879.2(ATP5MF-PTCD1):c.2159C>T (p.Pro720Leu)	ATP5MF-PTCD1, PTCD1 (P671L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131753	NM_001198879.2(ATP5MF-PTCD1):c.2146G>A (p.Ala716Thr)	ATP5MF-PTCD1, PTCD1 (A716T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285892	NM_015545.4(PTCD1):c.1978C>T (p.Gln660Ter)	PTCD1, ATP5MF-PTCD1 (Q660* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3131751	NM_001198879.2(ATP5MF-PTCD1):c.2081A>G (p.Asn694Ser)	ATP5MF-PTCD1, PTCD1 (N645S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131750	NM_001198879.2(ATP5MF-PTCD1):c.2028G>T (p.Gln676His)	ATP5MF-PTCD1, PTCD1 (Q627H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131748	NM_001198879.2(ATP5MF-PTCD1):c.2024G>A (p.Arg675His)	ATP5MF-PTCD1, PTCD1 (R626H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131747	NM_001198879.2(ATP5MF-PTCD1):c.1999G>A (p.Val667Ile)	ATP5MF-PTCD1, PTCD1 (V667I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131745	NM_001198879.2(ATP5MF-PTCD1):c.1933G>A (p.Ala645Thr)	ATP5MF-PTCD1, PTCD1 (A596T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131744	NM_001198879.2(ATP5MF-PTCD1):c.1930A>T (p.Asn644Tyr)	ATP5MF-PTCD1, PTCD1 (N595Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131743	NM_001198879.2(ATP5MF-PTCD1):c.1892A>C (p.Gln631Pro)	ATP5MF-PTCD1, PTCD1 (Q582P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131742	NM_001198879.2(ATP5MF-PTCD1):c.1850C>T (p.Pro617Leu)	ATP5MF-PTCD1, PTCD1 (P568L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131741	NM_001198879.2(ATP5MF-PTCD1):c.1807A>C (p.Asn603His)	ATP5MF-PTCD1, PTCD1 (N554H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131739	NM_001198879.2(ATP5MF-PTCD1):c.1778C>T (p.Pro593Leu)	ATP5MF-PTCD1, PTCD1 (P544L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131738	NM_001198879.2(ATP5MF-PTCD1):c.1760G>A (p.Gly587Glu)	ATP5MF-PTCD1, PTCD1 (G538E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131737	NM_001198879.2(ATP5MF-PTCD1):c.1740C>G (p.Ser580Arg)	ATP5MF-PTCD1, PTCD1 (S531R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131735	NM_001198879.2(ATP5MF-PTCD1):c.1673C>T (p.Ala558Val)	ATP5MF-PTCD1, PTCD1 (A558V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131734	NM_001198879.2(ATP5MF-PTCD1):c.1645G>C (p.Gly549Arg)	ATP5MF-PTCD1, PTCD1 (G500R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131733	NM_001198879.2(ATP5MF-PTCD1):c.1630G>A (p.Glu544Lys)	ATP5MF-PTCD1, PTCD1 (E495K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131732	NM_001198879.2(ATP5MF-PTCD1):c.1619C>T (p.Thr540Met)	ATP5MF-PTCD1, PTCD1 (T491M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131731	NM_001198879.2(ATP5MF-PTCD1):c.1550T>C (p.Ile517Thr)	ATP5MF-PTCD1, PTCD1 (I468T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131730	NM_001198879.2(ATP5MF-PTCD1):c.1516A>G (p.Thr506Ala)	ATP5MF-PTCD1, PTCD1 (T457A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131729	NM_001198879.2(ATP5MF-PTCD1):c.1502T>C (p.Val501Ala)	ATP5MF-PTCD1, PTCD1 (V452A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131728	NM_001198879.2(ATP5MF-PTCD1):c.1489G>A (p.Val497Ile)	ATP5MF-PTCD1, PTCD1 (V448I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709874	NM_015545.4(PTCD1):c.1335C>T (p.Pro445=)	PTCD1, ATP5MF-PTCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2657721	NM_015545.4(PTCD1):c.1282G>A (p.Ala428Thr)	ATP5MF-PTCD1, PTCD1 (A428T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 787054	NM_015545.4(PTCD1):c.1275C>A (p.Ala425=)	ATP5MF-PTCD1, PTCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131727	NM_001198879.2(ATP5MF-PTCD1):c.1396A>C (p.Lys466Gln)	ATP5MF-PTCD1, PTCD1 (K466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131726	NM_001198879.2(ATP5MF-PTCD1):c.1381C>T (p.Pro461Ser)	ATP5MF-PTCD1, PTCD1 (P412S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131725	NM_001198879.2(ATP5MF-PTCD1):c.1369G>A (p.Gly457Ser)	ATP5MF-PTCD1, PTCD1 (G457S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 810139	NM_015545.4(PTCD1):c.1087C>G (p.Pro363Ala)	ATP5MF-PTCD1, PTCD1 (P363A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3131724	NM_001198879.2(ATP5MF-PTCD1):c.1231C>T (p.Arg411Trp)	ATP5MF-PTCD1, PTCD1 (R411W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590210	NM_001198879.2(ATP5MF-PTCD1):c.1195G>A (p.Glu399Lys)	ATP5MF-PTCD1, PTCD1 (E399K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131723	NM_001198879.2(ATP5MF-PTCD1):c.1136G>C (p.Arg379Pro)	ATP5MF-PTCD1, PTCD1 (R330P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131722	NM_001198879.2(ATP5MF-PTCD1):c.1129G>A (p.Ala377Thr)	ATP5MF-PTCD1, PTCD1 (A328T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131721	NM_001198879.2(ATP5MF-PTCD1):c.1048C>T (p.Arg350Trp)	ATP5MF-PTCD1, PTCD1 (R301W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131720	NM_001198879.2(ATP5MF-PTCD1):c.1018G>T (p.Gly340Cys)	ATP5MF-PTCD1, PTCD1 (G291C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329382	NM_001198879.2(ATP5MF-PTCD1):c.1013T>C (p.Leu338Pro)	ATP5MF-PTCD1, PTCD1 (L289P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131786	NM_001198879.2(ATP5MF-PTCD1):c.971A>G (p.His324Arg)	ATP5MF-PTCD1, PTCD1 (H324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131785	NM_001198879.2(ATP5MF-PTCD1):c.902C>T (p.Ala301Val)	PTCD1, ATP5MF-PTCD1 (A301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131784	NM_001198879.2(ATP5MF-PTCD1):c.901G>A (p.Ala301Thr)	ATP5MF-PTCD1, PTCD1 (A301T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131783	NM_001198879.2(ATP5MF-PTCD1):c.876C>G (p.Phe292Leu)	ATP5MF-PTCD1, PTCD1 (F243L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131782	NM_001198879.2(ATP5MF-PTCD1):c.850C>T (p.Arg284Trp)	ATP5MF-PTCD1, PTCD1 (R235W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131781	NM_001198879.2(ATP5MF-PTCD1):c.806A>G (p.Glu269Gly)	ATP5MF-PTCD1, PTCD1 (E269G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131780	NM_001198879.2(ATP5MF-PTCD1):c.805G>A (p.Glu269Lys)	ATP5MF-PTCD1, PTCD1 (E220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131778	NM_001198879.2(ATP5MF-PTCD1):c.761A>G (p.Glu254Gly)	ATP5MF-PTCD1, PTCD1 (E205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131777	NM_001198879.2(ATP5MF-PTCD1):c.744G>A (p.Met248Ile)	ATP5MF-PTCD1, PTCD1 (M199I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131776	NM_001198879.2(ATP5MF-PTCD1):c.727A>G (p.Asn243Asp)	ATP5MF-PTCD1, PTCD1 (N194D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736056	NM_015545.4(PTCD1):c.569A>G (p.Lys190Arg)	ATP5MF-PTCD1, PTCD1 (K190R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3131775	NM_001198879.2(ATP5MF-PTCD1):c.686T>C (p.Ile229Thr)	ATP5MF-PTCD1, PTCD1 (I180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131774	NM_001198879.2(ATP5MF-PTCD1):c.680T>G (p.Val227Gly)	ATP5MF-PTCD1, PTCD1 (V227G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131773	NM_001198879.2(ATP5MF-PTCD1):c.677C>T (p.Thr226Met)	ATP5MF-PTCD1, PTCD1 (T226M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131772	NM_001198879.2(ATP5MF-PTCD1):c.589A>C (p.Lys197Gln)	ATP5MF-PTCD1, PTCD1 (K148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131771	NM_001198879.2(ATP5MF-PTCD1):c.554C>G (p.Pro185Arg)	ATP5MF-PTCD1, PTCD1 (P185R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131770	NM_001198879.2(ATP5MF-PTCD1):c.542G>A (p.Arg181Gln)	ATP5MF-PTCD1, PTCD1 (R132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131769	NM_001198879.2(ATP5MF-PTCD1):c.536G>A (p.Arg179Gln)	ATP5MF-PTCD1, PTCD1 (R130Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131768	NM_001198879.2(ATP5MF-PTCD1):c.527A>G (p.Lys176Arg)	ATP5MF-PTCD1, PTCD1 (K176R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131767	NM_001198879.2(ATP5MF-PTCD1):c.487T>G (p.Phe163Val)	ATP5MF-PTCD1, PTCD1 (F163V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131766	NM_001198879.2(ATP5MF-PTCD1):c.485G>T (p.Arg162Leu)	ATP5MF-PTCD1, PTCD1 (R113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131765	NM_001198879.2(ATP5MF-PTCD1):c.463G>A (p.Ala155Thr)	ATP5MF-PTCD1, PTCD1 (A155T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131764	NM_001198879.2(ATP5MF-PTCD1):c.455G>A (p.Arg152His)	ATP5MF-PTCD1, PTCD1 (R152H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 424616	NM_015545.4(PTCD1):c.307C>T (p.Arg103Cys)	ATP5MF-PTCD1, PTCD1 (R103C +1 more)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +1 more	GBenign
Select item 218721	NM_015545.4(PTCD1):c.295C>T (p.Arg99Trp)	ATP5MF-PTCD1, PTCD1 (R99W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131763	NM_001198879.2(ATP5MF-PTCD1):c.419C>T (p.Thr140Ile)	ATP5MF-PTCD1, PTCD1 (T140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131762	NM_001198879.2(ATP5MF-PTCD1):c.380C>T (p.Thr127Met)	ATP5MF-PTCD1, PTCD1 (T127M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 783498	NM_015545.4(PTCD1):c.189G>A (p.Thr63=)	ATP5MF-PTCD1, PTCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783497	NM_015545.4(PTCD1):c.189G>C (p.Thr63=)	ATP5MF-PTCD1, PTCD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3131761	NM_001198879.2(ATP5MF-PTCD1):c.319G>C (p.Glu107Gln)	ATP5MF-PTCD1, PTCD1 (E107Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131760	NM_001198879.2(ATP5MF-PTCD1):c.313G>A (p.Gly105Ser)	ATP5MF-PTCD1, PTCD1 (G56S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131759	NM_001198879.2(ATP5MF-PTCD1):c.305T>G (p.Leu102Arg)	ATP5MF-PTCD1, PTCD1 (L102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783499	NM_015545.4(PTCD1):c.131C>T (p.Ala44Val)	ATP5MF-PTCD1, PTCD1 (A44V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3131758	NM_001198879.2(ATP5MF-PTCD1):c.251G>T (p.Arg84Met)	ATP5MF-PTCD1, PTCD1 (R84M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131752	NM_001198879.2(ATP5MF-PTCD1):c.212A>G (p.Gln71Arg)	ATP5MF-PTCD1, PTCD1 (Q71R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131746	NM_001198879.2(ATP5MF-PTCD1):c.193A>G (p.Met65Val)	ATP5MF-PTCD1, PTCD1 (M16V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131740	NM_001198879.2(ATP5MF-PTCD1):c.178G>T (p.Ala60Ser)	ATP5MF-PTCD1, PTCD1 (A11S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3131736	NM_001198879.2(ATP5MF-PTCD1):c.170G>A (p.Arg57Gln)	ATP5MF-PTCD1, PTCD1 (R57Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	ACHE, ACTL6B +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GUncertain significance
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687317	GRCh37/hg19 7q22.1(chr7:98758955-99368262)x1	ARPC1A, ARPC1B +16 more	Copy number loss	not provided	GUncertain significance

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