ClinVar for Gene (Select 9844) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3088330	NM_014800.11(ELMO1):c.1597A>G (p.Ile533Val)	ELMO1 (I53V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088328	NM_014800.11(ELMO1):c.1442T>C (p.Met481Thr)	ELMO1 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 2921204	NM_014800.11(ELMO1):c.376A>G (p.Ile126Val)	ELMO1 (I126V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612150	NM_014800.11(ELMO1):c.587C>T (p.Ser196Leu)	ELMO1 (S196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487394	NM_014800.11(ELMO1):c.275T>C (p.Ile92Thr)	ELMO1 (I92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479055	NM_014800.11(ELMO1):c.65T>C (p.Met22Thr)	ELMO1 (M22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476823	NM_014800.11(ELMO1):c.503A>G (p.His168Arg)	ELMO1 (H168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474353	NM_014800.11(ELMO1):c.815G>T (p.Arg272Leu)	ELMO1 (R272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472042	NM_014800.11(ELMO1):c.1244G>A (p.Arg415His)	ELMO1 (R415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469294	NM_014800.11(ELMO1):c.479C>T (p.Thr160Met)	ELMO1 (T160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468490	NM_014800.11(ELMO1):c.1997C>T (p.Thr666Met)	ELMO1 (T186M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457315	NM_014800.11(ELMO1):c.532G>A (p.Val178Met)	ELMO1 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370639	NM_014800.11(ELMO1):c.2048G>A (p.Arg683Gln)	ELMO1 (R203Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363645	NM_014800.11(ELMO1):c.2116A>G (p.Ile706Val)	ELMO1 (I706V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345321	NM_014800.11(ELMO1):c.1973A>G (p.Asp658Gly)	ELMO1 (D178G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332390	NM_014800.11(ELMO1):c.1105A>G (p.Met369Val)	ELMO1 (M369V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328661	NM_014800.11(ELMO1):c.536C>T (p.Ala179Val)	ELMO1 (A179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325276	NM_014800.11(ELMO1):c.1043G>A (p.Arg348His)	ELMO1 (R348H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313975	NM_014800.11(ELMO1):c.1825C>T (p.Pro609Ser)	ELMO1 (P609S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301839	NM_014800.11(ELMO1):c.712G>A (p.Glu238Lys)	ELMO1 (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298778	NM_014800.11(ELMO1):c.406G>A (p.Gly136Ser)	ELMO1 (G136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296410	NM_014800.11(ELMO1):c.1579G>A (p.Asp527Asn)	ELMO1 (D47N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288867	NM_014800.11(ELMO1):c.926T>C (p.Met309Thr)	ELMO1 (M309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249703	NM_014800.11(ELMO1):c.983G>T (p.Arg328Leu)	ELMO1 (R328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809148	GRCh37/hg19 7p14.2-14.1(chr7:36374178-37923116)x1	ANLN, AOAH +4 more	Copy number loss	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 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1412049	NC_000007.13:g.(?_36429636)_(37956139_?)dup	ANLN, AOAH +5 more	Duplication	Primary ciliary dyskinesia 6	GUncertain significance
Select item 814958	GRCh37/hg19 7p14.1(chr7:37202606-39500521)x3	ELMO1, AMPH +8 more	Copy number gain	not provided	GUncertain significance
Select item 733659	NM_014800.11(ELMO1):c.780+8G>C	ELMO1	Single nucleotide variant (intron variant)	not provided	GBenign
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 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 563321	GRCh37/hg19 7p14.1(chr7:37400945-37626839)x3	ELMO1	Copy number gain	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	ABCA13, ABCB5 +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48