CCSER1[gene] and "single gene"[properties] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2328285	NM_001145065.2(CCSER1):c.1649T>C (p.Val550Ala)	CCSER1 (V550A)	Single nucleotide variant (missense variant)	not specified	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 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 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 1808037	GRCh37/hg19 4q22.1(chr4:91196374-91322634)x1	CCSER1	Copy number loss	not provided	GUncertain significance
Select item 1340525	GRCh37/hg19 4q22.1(chr4:90943592-91196145)x3	CCSER1	Copy number gain	not provided	GUncertain significance
Select item 980108	GRCh37/hg19 4q22.1(chr4:91580496-92874676)x3	CCSER1	Copy number gain	not provided	GUncertain significance
Select item 972967	GRCh37/hg19 4q22.1(chr4:92188768-92235446)x3	CCSER1	Copy number gain	not provided	Gnot provided
Select item 443804	GRCh37/hg19 4q22.1(chr4:91145588-91822311)x1	CCSER1	Copy number loss	See cases	GUncertain significance
Select item 394326	GRCh37/hg19 4q22.1(chr4:91797748-92473294)x1	CCSER1	Copy number loss	See cases	GLikely benign
Select item 393856	GRCh37/hg19 4q22.1(chr4:92396539-93184245)x3	CCSER1	Copy number gain	See cases	GLikely benign

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Items: 60