SMPD2[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 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 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 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 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 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2206526	NM_003080.3(SMPD2):c.23G>A (p.Arg8Gln)	PPIL6, SMPD2 (R8Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2510180	NM_003080.3(SMPD2):c.59C>T (p.Pro20Leu)	LOC129996959, SMPD2 (P20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251082	NM_003080.3(SMPD2):c.75C>G (p.His25Gln)	SMPD2 (H25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350978	NM_003080.3(SMPD2):c.130C>G (p.Leu44Val)	SMPD2 (L44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488603	NM_003080.3(SMPD2):c.268A>G (p.Ile90Val)	SMPD2 (I90V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607478	NM_003080.3(SMPD2):c.394G>A (p.Ala132Thr)	SMPD2 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166645	NM_003080.3(SMPD2):c.514G>A (p.Val172Met)	SMPD2 (V172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 733350	NM_003080.3(SMPD2):c.570G>C (p.Leu190=)	SMPD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264747	NM_003080.3(SMPD2):c.593A>G (p.His198Arg)	SMPD2 (H198R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321014	NM_003080.3(SMPD2):c.625G>A (p.Gly209Ser)	SMPD2 (G209S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605034	NM_003080.3(SMPD2):c.668T>C (p.Val223Ala)	SMPD2 (V223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166646	NM_003080.3(SMPD2):c.671G>C (p.Ser224Thr)	SMPD2 (S224T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592766	NM_003080.3(SMPD2):c.788C>T (p.Pro263Leu)	SMPD2 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166648	NM_003080.3(SMPD2):c.809C>G (p.Ser270Cys)	SMPD2 (S270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390758	NM_003080.3(SMPD2):c.823C>A (p.Leu275Met)	SMPD2 (L275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277102	NM_003080.3(SMPD2):c.826A>G (p.Met276Val)	SMPD2 (M276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379848	NM_003080.3(SMPD2):c.857C>A (p.Pro286Gln)	SMPD2 (P286Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335397	NM_003080.3(SMPD2):c.902C>T (p.Pro301Leu)	SMPD2 (P301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321015	NM_003080.3(SMPD2):c.919A>C (p.Lys307Gln)	SMPD2 (K307Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622939	NM_003080.3(SMPD2):c.925G>A (p.Ala309Thr)	SMPD2 (A309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472366	NM_003080.3(SMPD2):c.946G>C (p.Gly316Arg)	SMPD2 (G316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403325	NM_003080.3(SMPD2):c.980C>T (p.Ala327Val)	SMPD2 (A327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740187	NM_003080.3(SMPD2):c.1050C>T (p.Ala350=)	SMPD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3166644	NM_003080.3(SMPD2):c.1076C>T (p.Thr359Ile)	SMPD2 (T359I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321016	NM_003080.3(SMPD2):c.1103C>T (p.Ala368Val)	SMPD2 (A368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454642	NM_003080.3(SMPD2):c.1108G>A (p.Ala370Thr)	SMPD2 (A370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492769	NM_003080.3(SMPD2):c.1171C>T (p.His391Tyr)	SMPD2 (H391Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386319	NM_003080.3(SMPD2):c.1187C>T (p.Ala396Val)	SMPD2 (A396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489662	NM_003080.3(SMPD2):c.1208G>A (p.Gly403Asp)	SMPD2 (G403D)	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 3062942	GRCh37/hg19 6q21(chr6:108992778-110303422)x1	AK9, ARMC2 +10 more	Copy number loss	not specified	GUncertain significance
Select item 2425986	NC_000006.11:g.(?_109690054)_(110266416_?)dup	AK9, CD164 +5 more	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2425984	NC_000006.11:g.(?_107019871)_(110266416_?)del	AFG1L, AK9 +21 more	Deletion	not provided	GUncertain significance
Select item 1807797	GRCh37/hg19 6q21(chr6:109576603-109878834)x1	AK9, CD164 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	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 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688296	GRCh37/hg19 6q21(chr6:109721133-110193742)x3	AK9, FIG4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686095	GRCh37/hg19 6q21(chr6:109726649-110071067)x3	AK9, FIG4 +4 more	Copy number gain	not provided	GUncertain significance
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 394719	GRCh37/hg19 6q21(chr6:109714115-109797421)x1	MICAL1, PPIL6 +2 more	Copy number loss	See cases	GLikely benign

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Items: 57