MMP16[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524185	t(5;8)(q13;q11.2)dn	MMP16	Translocation	not specified	GUncertain significance
Select item 1270817	NM_005941.5(MMP16):c.*2392G>A	MMP16	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2272494	NM_005941.5(MMP16):c.1298G>C (p.Gly433Ala)	MMP16 (G433A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486697	NM_005941.5(MMP16):c.1252A>G (p.Thr418Ala)	MMP16 (T418A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155880	NM_005941.5(MMP16):c.1210G>T (p.Val404Leu)	MMP16 (V404L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155853	NM_005941.5(MMP16):c.1201G>A (p.Gly401Arg)	MMP16 (G401R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155821	NM_005941.5(MMP16):c.1172G>A (p.Ser391Asn)	MMP16 (S391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487269	NM_005941.5(MMP16):c.1156C>T (p.Arg386Trp)	MMP16 (R386W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789604	NM_005941.5(MMP16):c.1131C>T (p.Tyr377=)	MMP16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3155784	NM_005941.5(MMP16):c.1106G>A (p.Arg369Lys)	MMP16 (R369K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235876	NM_005941.5(MMP16):c.1099C>T (p.Arg367Ter)	MMP16 (R367*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3295292	NM_005941.5(MMP16):c.1069A>T (p.Met357Leu)	MMP16 (M357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298158	NM_005941.5(MMP16):c.1061G>A (p.Arg354His)	MMP16 (R354H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594227	NM_005941.5(MMP16):c.1009G>A (p.Gly337Arg)	MMP16 (G337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455631	NM_005941.5(MMP16):c.929G>A (p.Arg310His)	MMP16 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295293	NM_005941.5(MMP16):c.889C>G (p.Pro297Ala)	MMP16 (P297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326421	NM_005941.5(MMP16):c.825C>A (p.Asn275Lys)	MMP16 (N275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622571	NM_005941.5(MMP16):c.448A>C (p.Lys150Gln)	MMP16 (K150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371772	NM_005941.5(MMP16):c.334A>C (p.Lys112Gln)	MMP16 (K112Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329779	NM_005941.5(MMP16):c.296C>T (p.Pro99Leu)	MMP16 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726095	NM_005941.5(MMP16):c.282-6_282-4del	MMP16	Deletion (intron variant)	not provided	GLikely benign
Select item 2250764	NM_005941.5(MMP16):c.230A>C (p.Gln77Pro)	MMP16 (Q77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776362	NM_005941.5(MMP16):c.102C>G (p.Val34=)	MMP16	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1809487	GRCh37/hg19 8q21.3(chr8:89215136-89342944)x1	MMP16	Copy number loss	not provided	GUncertain significance
Select item 979841	GRCh37/hg19 8q21.3(chr8:89055371-89170064)x1	MMP16	Copy number loss	not provided	GUncertain significance
Select item 684884	GRCh37/hg19 8q21.3(chr8:88989315-89115278)x3	MMP16	Copy number gain	not provided	GUncertain significance

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Items: 26