ClinVar for Gene (Select 27244) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317666	NM_014454.3(SESN1):c.1226G>A (p.Arg409His)	ARMC2, SESN1 (R350H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317665	NM_014454.3(SESN1):c.896A>G (p.Asn299Ser)	ARMC2, SESN1 (N240S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3160543	NM_014454.3(SESN1):c.953A>G (p.Asn318Ser)	ARMC2, SESN1 (N259S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160542	NM_014454.3(SESN1):c.767C>T (p.Ala256Val)	ARMC2, SESN1 (A197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160540	NM_014454.3(SESN1):c.644A>G (p.Asn215Ser)	ARMC2, SESN1 (N215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160539	NM_014454.3(SESN1):c.632A>G (p.Asn211Ser)	ARMC2, SESN1 (N86S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160538	NM_014454.3(SESN1):c.618C>A (p.Asp206Glu)	ARMC2, SESN1 (D81E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160537	NM_014454.3(SESN1):c.587A>G (p.His196Arg)	ARMC2, SESN1 (H196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160536	NM_014454.3(SESN1):c.327A>T (p.Arg109Ser)	ARMC2, SESN1 (R109S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160535	NM_014454.3(SESN1):c.1592T>C (p.Ile531Thr)	ARMC2, SESN1 (I472T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160534	NM_014454.3(SESN1):c.1492A>C (p.Thr498Pro)	ARMC2, SESN1 (T373P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160533	NM_014454.3(SESN1):c.1280A>T (p.Tyr427Phe)	ARMC2, SESN1 (Y368F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2545537	NM_014454.3(SESN1):c.1360G>C (p.Asp454His)	ARMC2, SESN1 (D329H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513295	NM_014454.3(SESN1):c.1216C>G (p.Pro406Ala)	ARMC2, SESN1 (P281A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488389	NM_014454.3(SESN1):c.416G>A (p.Arg139His)	ARMC2, SESN1 (R80H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 2383465	NM_014454.3(SESN1):c.536T>C (p.Ile179Thr)	ARMC2, SESN1 (I120T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339613	NM_014454.3(SESN1):c.743C>T (p.Ala248Val)	ARMC2, SESN1 (A123V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315886	NM_014454.3(SESN1):c.286G>C (p.Gly96Arg)	ARMC2, SESN1 (G37R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311922	NM_014454.3(SESN1):c.1442A>G (p.Tyr481Cys)	ARMC2, SESN1 (Y356C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226332	NM_014454.3(SESN1):c.1535A>G (p.Asp512Gly)	ARMC2, SESN1 (D453G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 42