29349[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 146171	GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1	CCSER1, LOC110121083 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 153832	GRCh38/hg38 4q22.1(chr4:89972907-90221770)x1	CCSER1, LOC110121083 +4 more	Copy number loss	See cases	GUncertain significance
Select item 155050	GRCh38/hg38 4q22.1(chr4:90049325-90832546)x1	CCSER1, LOC121725178 +5 more	Copy number loss	See cases	GUncertain significance
Select item 549594	NC_000004.12:g.90236498_90494805dup	CCSER1, LOC121725178	Duplication	Primary amenorrhea	GLikely benign
Select item 1701670	NC_000004.12:g.90299293_91204613del	CCSER1, LOC121725178 +1 more	Deletion	not provided	GUncertain significance
Select item 3140140	NM_001145065.2(CCSER1):c.7G>C (p.Asp3His)	CCSER1 (D3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293431	NM_001145065.2(CCSER1):c.40C>T (p.Arg14Trp)	CCSER1 (R14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140129	NM_001145065.2(CCSER1):c.113C>T (p.Thr38Ile)	CCSER1 (T38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481970	NM_001145065.2(CCSER1):c.243G>C (p.Glu81Asp)	CCSER1 (E81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264658	NM_001145065.2(CCSER1):c.322C>T (p.His108Tyr)	CCSER1 (H108Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140138	NM_001145065.2(CCSER1):c.361A>G (p.Ser121Gly)	CCSER1 (S121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396529	NM_001145065.2(CCSER1):c.377A>C (p.Lys126Thr)	CCSER1 (K126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204311	NM_001145065.2(CCSER1):c.680C>T (p.Ser227Leu)	CCSER1 (S227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140139	NM_001145065.2(CCSER1):c.710G>A (p.Arg237Gln)	CCSER1 (R237Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491180	NM_001145065.2(CCSER1):c.713C>T (p.Ala238Val)	CCSER1 (A238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396412	NM_001145065.2(CCSER1):c.757A>G (p.Thr253Ala)	CCSER1 (T253A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218161	NM_001145065.2(CCSER1):c.862G>A (p.Gly288Ser)	CCSER1 (G288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140141	NM_001145065.2(CCSER1):c.932C>G (p.Thr311Arg)	CCSER1 (T311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602545	NM_001145065.2(CCSER1):c.932C>T (p.Thr311Met)	CCSER1 (T311M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605723	NM_001145065.2(CCSER1):c.938C>T (p.Thr313Ile)	CCSER1 (T313I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234323	NM_001145065.2(CCSER1):c.974G>A (p.Arg325Lys)	CCSER1 (R325K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654950	NM_001145065.2(CCSER1):c.1009T>C (p.Leu337=)	CCSER1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3140128	NM_001145065.2(CCSER1):c.1013C>T (p.Pro338Leu)	CCSER1 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541079	NM_001145065.2(CCSER1):c.1069G>A (p.Ala357Thr)	CCSER1 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264660	NM_001145065.2(CCSER1):c.1187T>G (p.Phe396Cys)	CCSER1 (F396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140130	NM_001145065.2(CCSER1):c.1298A>G (p.His433Arg)	CCSER1 (H433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380870	NM_001145065.2(CCSER1):c.1319C>T (p.Ala440Val)	CCSER1 (A440V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140131	NM_001145065.2(CCSER1):c.1351C>T (p.Arg451Cys)	CCSER1 (R451C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569744	NM_001145065.2(CCSER1):c.1436A>G (p.Asp479Gly)	CCSER1 (D479G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302226	NM_001145065.2(CCSER1):c.1474A>G (p.Arg492Gly)	CCSER1 (R492G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264292	NM_001145065.2(CCSER1):c.1568T>G (p.Leu523Arg)	CCSER1 (L523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147956	GRCh38/hg38 4q22.1(chr4:90421068-90921656)x1	CCSER1, LOC126807110	Copy number loss	See cases	GBenign
Select item 2328285	NM_001145065.2(CCSER1):c.1649T>C (p.Val550Ala)	CCSER1 (V550A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152884	GRCh38/hg38 4q22.1-22.2(chr4:90585759-94055316)x3	ATOH1, CCSER1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2605704	NM_001145065.2(CCSER1):c.1736T>C (p.Leu579Pro)	CCSER1 (L579P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552480	NM_001145065.2(CCSER1):c.1751A>G (p.Asp584Gly)	CCSER1 (D584G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140133	NM_001145065.2(CCSER1):c.1765G>C (p.Ala589Pro)	CCSER1 (A589P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366259	NM_001145065.2(CCSER1):c.1837A>C (p.Asn613His)	CCSER1 (N613H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382211	NM_001145065.2(CCSER1):c.1910A>G (p.Lys637Arg)	CCSER1 (K637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140134	NM_001145065.2(CCSER1):c.1934G>A (p.Ser645Asn)	CCSER1 (S645N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381332	NM_001145065.2(CCSER1):c.1982C>T (p.Pro661Leu)	CCSER1 (P661L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144381	GRCh38/hg38 4q22.1(chr4:90832487-91319431)x3	CCSER1	Copy number gain	See cases	GBenign
Select item 2465482	NM_001145065.2(CCSER1):c.2168A>G (p.Tyr723Cys)	CCSER1 (Y723C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148774	GRCh38/hg38 4q22.1(chr4:91019687-92014232)x3	CCSER1, LOC129992838	Copy number gain	See cases	GLikely benign
Select item 2468443	NM_001145065.2(CCSER1):c.2189G>T (p.Arg730Ile)	CCSER1 (R730I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468444	NM_001145065.2(CCSER1):c.2190A>T (p.Arg730Ser)	CCSER1 (R730S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780487	NM_001145065.2(CCSER1):c.2201T>C (p.Val734Ala)	CCSER1 (V734A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 148111	GRCh38/hg38 4q22.1(chr4:91319372-92513250)x3	CCSER1, GRID2 +4 more	Copy number gain	See cases	GBenign
Select item 146875	GRCh38/hg38 4q22.1(chr4:91475388-92263153)x3	CCSER1, LNCPRESS2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 144867	GRCh38/hg38 4q22.1(chr4:91475388-92298126)x3	CCSER1, LNCPRESS2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 149229	GRCh38/hg38 4q22.1(chr4:91585251-92298185)x3	CCSER1, LNCPRESS2 +1 more	Copy number gain	See cases	GLikely benign
Select item 3140136	NM_001145065.2(CCSER1):c.2264A>G (p.Asp755Gly)	CCSER1 (D755G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465832	NM_001145065.2(CCSER1):c.2270A>G (p.Lys757Arg)	CCSER1 (K757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511378	NM_001145065.2(CCSER1):c.2280T>G (p.His760Gln)	CCSER1 (H760Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264659	NM_001145065.2(CCSER1):c.2372G>A (p.Ser791Asn)	CCSER1 (S791N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234322	NM_001145065.2(CCSER1):c.2464C>T (p.Arg822Trp)	CCSER1 (R822W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349531	NM_001145065.2(CCSER1):c.2467G>A (p.Ala823Thr)	CCSER1 (A823T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527496	NM_001145065.2(CCSER1):c.2509G>A (p.Glu837Lys)	CCSER1 (E837K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211890	NM_001145065.2(CCSER1):c.2510A>C (p.Glu837Ala)	CCSER1 (E837A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616349	NM_001145065.2(CCSER1):c.2512G>A (p.Gly838Arg)	CCSER1 (G838R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411356	NM_001145065.2(CCSER1):c.2555C>T (p.Thr852Met)	CCSER1 (T852M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260021	NM_001145065.2(CCSER1):c.2594A>G (p.Gln865Arg)	CCSER1 (Q865R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140137	NM_001145065.2(CCSER1):c.2602A>G (p.Arg868Gly)	CCSER1 (R868G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298546	NM_001145065.2(CCSER1):c.2630G>T (p.Ser877Ile)	CCSER1 (S877I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258737	NM_001145065.2(CCSER1):c.2664C>A (p.His888Gln)	CCSER1 (H888Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685981	GRCh37/hg19 4q22.1(chr4:91296256-93417077)x3	CCSER1, GRID2	Copy number gain	not provided	GUncertain significance
Select item 2685980	GRCh37/hg19 4q22.1-22.2(chr4:90821342-93994597)x3	CCSER1, GRID2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808037	GRCh37/hg19 4q22.1(chr4:91196374-91322634)x1	CCSER1	Copy number loss	not provided	GUncertain significance
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340525	GRCh37/hg19 4q22.1(chr4:90943592-91196145)x3	CCSER1	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980108	GRCh37/hg19 4q22.1(chr4:91580496-92874676)x3	CCSER1	Copy number gain	not provided	GUncertain significance
Select item 980107	GRCh37/hg19 4q22.1(chr4:91852768-93447869)x1	CCSER1, GRID2	Copy number loss	not provided	GUncertain significance
Select item 980104	GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3	CCSER1, GRID2	Copy number gain	not provided	GLikely benign
Select item 972967	GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3	CCSER1	Copy number gain	not provided	Gnot provided
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443804	GRCh37/hg19 4q22.1(chr4:91145588-91822311)x1	CCSER1	Copy number loss	See cases	GUncertain significance
Select item 443443	GRCh37/hg19 4q22.1(chr4:92491812-93233588)x3	CCSER1, GRID2	Copy number gain	See cases	GUncertain significance
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 442416	GRCh37/hg19 4q22.1(chr4:92494315-93233588)x3	CCSER1, GRID2	Copy number gain	See cases	GUncertain significance
Select item 441775	GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3	CCSER1, GRID2	Copy number gain	See cases	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic

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