SACM1L[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157465	NM_014016.5(SACM1L):c.11C>T (p.Ala4Val)	LOC129936632, SACM1L (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157467	NM_014016.5(SACM1L):c.17A>T (p.Tyr6Phe)	LOC129936632, SACM1L (Y6F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315984	NM_014016.5(SACM1L):c.28A>G (p.Lys10Glu)	LOC129936632, SACM1L (K10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 145538	GRCh38/hg38 3p21.31(chr3:45691931-46277910)x3	CCR1, CCR3 +23 more	Copy number gain	See cases	GLikely benign
Select item 3315983	NM_014016.5(SACM1L):c.137A>C (p.Lys46Thr)	SACM1L (K46T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404946	NM_014016.5(SACM1L):c.172T>C (p.Phe58Leu)	SACM1L (F58L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264455	NM_014016.5(SACM1L):c.217A>G (p.Ile73Val)	SACM1L (I73V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334618	NM_014016.5(SACM1L):c.266T>C (p.Val89Ala)	SACM1L (V89A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157468	NM_014016.5(SACM1L):c.275C>G (p.Ala92Gly)	SACM1L (A92G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315981	NM_014016.5(SACM1L):c.373G>A (p.Val125Ile)	SACM1L (V125I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315980	NM_014016.5(SACM1L):c.379A>C (p.Asn127His)	SACM1L (N127H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157469	NM_014016.5(SACM1L):c.379A>T (p.Asn127Tyr)	SACM1L (N127Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211550	NM_014016.5(SACM1L):c.434G>A (p.Arg145Gln)	SACM1L (R145Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613959	NM_014016.5(SACM1L):c.443A>G (p.Asn148Ser)	SACM1L (N45S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464656	NM_014016.5(SACM1L):c.551G>A (p.Arg184Gln)	SACM1L (R123Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294257	NM_014016.5(SACM1L):c.587T>C (p.Met196Thr)	SACM1L (M93T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157470	NM_014016.5(SACM1L):c.596G>A (p.Cys199Tyr)	SACM1L (C138Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324055	NM_014016.5(SACM1L):c.674T>C (p.Val225Ala)	SACM1L (V225A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327182	NM_014016.5(SACM1L):c.695G>C (p.Gly232Ala)	SACM1L (G129A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524704	NM_014016.5(SACM1L):c.729T>G (p.Ile243Met)	SACM1L (I243M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407601	NM_014016.5(SACM1L):c.730G>A (p.Val244Met)	SACM1L (V183M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315982	NM_014016.5(SACM1L):c.800G>A (p.Arg267Lys)	SACM1L (R164K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343885	NM_014016.5(SACM1L):c.994A>T (p.Met332Leu)	SACM1L (M229L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457566	NM_014016.5(SACM1L):c.1214G>A (p.Arg405His)	SACM1L (R405H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339015	NM_014016.5(SACM1L):c.1255C>T (p.His419Tyr)	SACM1L (H358Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590645	NM_014016.5(SACM1L):c.1364T>C (p.Leu455Ser)	SACM1L (L352S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410568	NM_014016.5(SACM1L):c.1432A>G (p.Met478Val)	SACM1L (M417V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455572	NM_014016.5(SACM1L):c.1530T>G (p.His510Gln)	SACM1L (H449Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253191	NM_014016.5(SACM1L):c.1546C>G (p.Pro516Ala)	SACM1L (P455A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258381	NM_014016.5(SACM1L):c.1619T>A (p.Leu540His)	SACM1L (L437H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351477	NM_014016.5(SACM1L):c.1729G>T (p.Ala577Ser)	SACM1L (A474S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 37